{"id":476,"date":"2024-02-12T18:46:27","date_gmt":"2024-02-12T18:46:27","guid":{"rendered":"https:\/\/sebgc.es\/blog\/?page_id=476"},"modified":"2024-02-12T18:46:27","modified_gmt":"2024-02-12T18:46:27","slug":"frontiers-in-genetics","status":"publish","type":"page","link":"https:\/\/sebigec.es\/blog\/index.php\/frontiers-in-genetics\/","title":{"rendered":"Frontiers in genetics"},"content":{"rendered":"<ul class=\"wp-block-latest-posts__list is-grid columns-3 has-dates wp-block-latest-posts\"><li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/04\/07\/identification-and-functional-analysis-of-nad-metabolism-related-gene-nt5e-in-pulmonary-hypertension\/\">Identification and functional analysis of NAD+ metabolism-related gene NT5E in pulmonary hypertension<\/a><time datetime=\"2026-04-07T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">abril 7, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/04\/02\/multi-omics-analysis-to-identify-the-dynamic-changes-of-immune-cells-and-marker-genes-in-renal-fibrosis\/\">Multi-omics analysis to identify the dynamic changes of immune cells and marker genes in renal fibrosis<\/a><time datetime=\"2026-04-02T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">abril 2, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/04\/02\/functional-inactivation-of-mdr3-caused-by-a-homozygous-abcb4-missense-variant-leading-to-liver-failure\/\">Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure<\/a><time datetime=\"2026-04-02T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">abril 2, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/04\/01\/genetic-association-of-loc100130476-rs80213143-with-susceptibility-and-renal-involvement-in-systemic-lupus-erythematosus\/\">Genetic association of LOC100130476 rs80213143 with susceptibility and renal involvement in systemic lupus erythematosus<\/a><time datetime=\"2026-04-01T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">abril 1, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/04\/01\/ttn-variants-in-pediatric-cardiomyopathy-a-retrospective-cohort-study\/\">TTN variants in pediatric cardiomyopathy: a retrospective cohort study<\/a><time datetime=\"2026-04-01T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">abril 1, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/30\/expanding-the-clinical-and-mutational-spectrum-of-hereditary-spastic-paraplegia-type-4-in-a-cohort-of-patients-from-central-china\/\">Expanding the clinical and mutational spectrum of hereditary spastic paraplegia type 4 in a cohort of patients from central China<\/a><time datetime=\"2026-03-30T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 30, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/30\/case-report-prenatal-genetic-analysis-of-a-rare-fetus-with-45-x-46-x-dic-r-y-y-46-x-ry-karyotype\/\">Case Report: Prenatal genetic analysis of a rare fetus with 45, X\/46, X, dic r (Y; Y)\/46, X, r(Y) karyotype<\/a><time datetime=\"2026-03-30T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 30, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/27\/case-report-novel-pathogenic-variant-in-autosomal-recessive-wnt10a-related-odonto-onycho-dermal-dysplasia\/\">Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia<\/a><time datetime=\"2026-03-27T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 27, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/27\/developmental-and-epileptic-encephalopathies-with-germline-piga-variants-in-five-chinese-children-a-case-report-and-literature-review\/\">Developmental and epileptic encephalopathies with germline PIGA variants in five Chinese children: a case report and literature review<\/a><time datetime=\"2026-03-27T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 27, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/26\/genetic-aetiology-of-global-developmental-delay-and-intellectual-disability-in-africa-a-scoping-review\/\">Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review<\/a><time datetime=\"2026-03-26T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 26, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/24\/cftr-gene-variant-detection-in-moroccan-individuals-via-nanopore-long-read-sequencing\/\">CFTR gene variant detection in moroccan individuals via nanopore long-read sequencing<\/a><time datetime=\"2026-03-24T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 24, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/18\/ormdl3-from-an-asthma-susceptibility-gene-to-multi-disease-associations\/\">ORMDL3: from an asthma susceptibility gene to multi-disease associations<\/a><time datetime=\"2026-03-18T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 18, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/18\/novel-splice-site-variants-in-tmprss3-impair-hearing-via-exon-skipping-and-abrogated-protease-activity\/\">Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity<\/a><time datetime=\"2026-03-18T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 18, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/16\/a-novel-pathogenic-apc-variant-identified-in-a-chinese-pedigree-with-familial-adenomatous-polyposis\/\">A novel pathogenic APC variant identified in a Chinese pedigree with familial adenomatous polyposis<\/a><time datetime=\"2026-03-16T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 16, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/12\/case-report-type-ii-tyrosinemia-caused-by-mutations-at-the-c-843_844-inv-p-trp282gly-variant-locus\/\">Case Report: Type II tyrosinemia caused by mutations at the c.843_844 inv p.(Trp282Gly) variant locus<\/a><time datetime=\"2026-03-12T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 12, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/12\/editorial-inborn-errors-of-carbohydrate-metabolism-volume-ii\/\">Editorial: Inborn errors of carbohydrate metabolism volume II<\/a><time datetime=\"2026-03-12T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 12, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/11\/case-report-biallelic-padi6-frameshift-variants-contribute-to-preimplantation-embryonic-lethality\/\">Case Report: Biallelic PADI6 frameshift variants contribute to preimplantation embryonic lethality<\/a><time datetime=\"2026-03-11T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 11, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/10\/sox9-gene-anomalies-and-campomelic-acampomelic-campomelic-dysplasia-case-report-and-literature-review\/\">SOX9 gene anomalies and campomelic \/ acampomelic campomelic dysplasia: case report and literature review<\/a><time datetime=\"2026-03-10T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 10, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/identification-of-gene-expression-signatures-associated-with-neuroinflammation-in-discogenic-sciatica-using-machine-learning-and-experimental-validation\/\">Identification of gene expression signatures associated with neuroinflammation in discogenic sciatica using machine learning and experimental validation<\/a><time datetime=\"2026-03-05T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/04\/co-occurring-dmd-gja1-and-novel-fyco1-variants-in-a-proband-from-a-consanguineous-oculodentodigital-dysplasia-family-a-rare-multi-locus-case-report\/\">Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report<\/a><time datetime=\"2026-03-04T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 4, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/04\/exploring-the-strengths-and-limitations-of-ai-driven-variant-prioritization-versus-manual-curation-in-inborn-errors-of-immunity\/\">Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity<\/a><time datetime=\"2026-03-04T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 4, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/04\/defects-in-pdia4-increase-individuals-susceptibility-to-congenital-heart-disease\/\">Defects in PDIA4 increase individuals\u2019 susceptibility to congenital heart disease<\/a><time datetime=\"2026-03-04T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 4, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/26\/lung-scrna-seq-reveals-chronic-inflammation-and-emphysemous-phenotype-in-mice-with-osteogenesis-imperfecta\/\">Lung scRNA-seq reveals chronic inflammation and emphysemous phenotype in mice with osteogenesis imperfecta<\/a><time datetime=\"2026-02-26T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 26, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/26\/prognosis-of-pediatric-restrictive-cardiomyopathy-more-severe-in-sarcomeric-variants\/\">Prognosis of pediatric restrictive cardiomyopathy: more severe in sarcomeric variants<\/a><time datetime=\"2026-02-26T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 26, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/26\/genetic-analysis-and-clinical-characteristics-of-sporadic-and-familial-congenital-cataracts-in-southern-chinese-families\/\">Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families<\/a><time datetime=\"2026-02-26T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 26, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/25\/novel-apc-promoter-1b-variant-associated-with-gastric-adenocarcinoma-and-proximal-polyposis-of-the-stomach-a-case-report\/\">Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report<\/a><time datetime=\"2026-02-25T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 25, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/19\/clinical-and-genetic-features-of-hereditary-transthyretin-amyloidosis-with-polyneuropathy-in-china-insights-from-case-analysis-and-literature-review\/\">Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review<\/a><time datetime=\"2026-02-19T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 19, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/18\/case-report-identification-of-a-de-novo-missense-variant-in-the-n-terminal-zinc-finger-domain-of-zeb2-in-a-patient-presenting-with-neurodevelopmental-delay-and-recurrent-pulmonary-infections\/\">Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections<\/a><time datetime=\"2026-02-18T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 18, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/13\/delineating-the-trajectory-of-adult-chronic-diseases-and-healthcare-use-for-22q11-2-microdeletion-in-a-general-population-context\/\">Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context<\/a><time datetime=\"2026-02-13T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 13, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/12\/genetic-polymorphisms-of-the-cdc27-gene-are-associated-with-susceptibility-and-outcomes-of-non-syndromic-congenital-heart-disease-a-bi-ethnic-case-control-study-in-chinese-populations\/\">Genetic polymorphisms of the CDC27 gene are associated with susceptibility and outcomes of non-syndromic congenital heart disease: a bi-ethnic case\u2013control study in Chinese populations<\/a><time datetime=\"2026-02-12T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 12, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/09\/identification-and-functional-analysis-of-a-novel-trappc2-intronic-variant-in-a-four-generation-chinese-pedigree-with-sedt\/\">Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT<\/a><time datetime=\"2026-02-09T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 9, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/09\/correction-bag3-related-myofibrillar-myopathy-focus-on-its-cardiac-involvement\/\">Correction: BAG3-related myofibrillar myopathy: focus on its cardiac involvement<\/a><time datetime=\"2026-02-09T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 9, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/06\/identification-and-functional-characterization-of-a-novel-pathogenic-col1a1-splicing-variant-in-a-chinese-family-with-osteogenesis-imperfecta\/\">Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta<\/a><time datetime=\"2026-02-06T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 6, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/05\/polr3a-related-syndrome-complicated-with-cerebral-abscesses-a-case-report-and-literature-review\/\">POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review<\/a><time datetime=\"2026-02-05T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/04\/clinical-and-genetic-characteristics-of-rare-congenital-adrenal-hyperplasia-a-retrospective-analysis-in-a-chinese-population\/\">Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population<\/a><time datetime=\"2026-02-04T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 4, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/04\/analyzing-the-genetic-profile-of-autistic-children-and-adolescents-with-minimal-verbal-abilities\/\">Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities<\/a><time datetime=\"2026-02-04T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 4, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/02\/adult-onset-vanishing-white-matter-disease-caused-by-the-eif2b5-c-185at-p-asp62val-variant\/\">Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A&gt;T (p.Asp62Val) variant<\/a><time datetime=\"2026-02-02T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 2, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/26\/case-report-novel-adamtsl2-compound-heterozygous-mutations-in-geleophysic-dysplasia-with-bilateral-glaucoma-and-keratoconus-like-corneal-ectasia\/\">Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia<\/a><time datetime=\"2026-01-26T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 26, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/23\/case-report-clinical-and-genetic-analysis-of-a-family-with-hereditary-spherocytosis-combined-with-familial-chylomicronemia-syndrome\/\">Case Report: Clinical and genetic analysis of a family with hereditary spherocytosis combined with familial chylomicronemia syndrome<\/a><time datetime=\"2026-01-23T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 23, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/23\/an-intronic-micro-deletion-impacts-the-transcription-and-translation-of-pkd1-gene\/\">An intronic micro-deletion impacts the transcription and translation of PKD1 gene<\/a><time datetime=\"2026-01-23T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 23, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/23\/elective-genomic-screening-results-of-the-implementation-of-a-whole-genome-sequencing-program-at-a-medical-check-up-unit-in-spain\/\">Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain<\/a><time datetime=\"2026-01-23T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 23, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/13\/phenotype-and-genotype-of-hypophosphatasia-cases-in-saudi-arabia-multi-center-case-cohort\/\">Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort<\/a><time datetime=\"2026-01-13T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 13, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/12\/multiple-susceptibility-enhancer-variants-increasing-add3-expression-predisposes-to-biliary-atresia-risk\/\">Multiple susceptibility enhancer variants increasing ADD3 expression predisposes to biliary atresia risk<\/a><time datetime=\"2026-01-12T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 12, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/12\/coffin-lowry-syndrome-a-systematic-review-of-rps6ka3-confirmed-cases-and-implications-for-diagnosis-and-counseling\/\">Coffin\u2013Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling<\/a><time datetime=\"2026-01-12T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 12, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/09\/retrospective-analysis-of-non-invasive-prenatal-testing-a-population-study-involving-19835-participants-in-the-shaoyang-area\/\">Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participants in the Shaoyang area<\/a><time datetime=\"2026-01-09T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 9, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/08\/case-report-novel-gla-mutation-in-a-chinese-female-with-renal-predominant-fabry-disease-and-cardiac-hypertrophy\/\">Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy<\/a><time datetime=\"2026-01-08T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 8, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/07\/case-report-myoclonic-and-tremulous-movements-associated-with-coq8a-related-coenzyme-q10-deficiency-type-4\/\">Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4<\/a><time datetime=\"2026-01-07T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 7, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/07\/tpm1-p-e181k-mutation-suppresses-camkii-hdac4-signaling-pathway-leading-to-pediatric-restrictive-cardiomyopathy\/\">TPM1-p.E181K mutation suppresses CaMKII\/HDAC4 signaling pathway leading to pediatric restrictive cardiomyopathy<\/a><time datetime=\"2026-01-07T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 7, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/06\/genomic-and-ancestral-variations-linked-to-the-development-of-post-acute-sequelae-of-sars-cov-2-infection-in-indian-populations\/\">Genomic and ancestral variations linked to the development of post-acute sequelae of SARS-CoV-2 infection in Indian populations<\/a><time datetime=\"2026-01-06T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 6, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/05\/familial-multiple-fetal-cerebral-arteriovenous-malformations-a-case-report-of-maternal-genetic-susceptibility-and-fetal-manifestation\/\">Familial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation<\/a><time datetime=\"2026-01-05T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/05\/expanding-the-mutational-spectrum-of-congenital-microcephaly-in-pakistani-families\/\">Expanding the mutational spectrum of congenital microcephaly in Pakistani families<\/a><time datetime=\"2026-01-05T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/05\/case-report-genotype-phenotype-correlations-in-flna-mutations-insights-from-a-case-of-multisystem-dysfunction\/\">Case Report: genotype\u2013phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction<\/a><time datetime=\"2026-01-05T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/05\/retinitis-pigmentosa-and-sensorineural-deafness-associated-with-a-de-novo-dhx16-mutation-case-report\/\">Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report<\/a><time datetime=\"2026-01-05T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/02\/correction-identification-of-a-novel-ank1-gene-variant-c-1504-9ga-and-its-mechanism-of-intron-retention-in-hereditary-spherocytosis\/\">Correction: Identification of a novel ANK1 gene variant c.1504-9G&gt;A and its mechanism of intron retention in hereditary spherocytosis<\/a><time datetime=\"2026-01-02T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 2, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/18\/application-of-next-generation-sequencing-to-determine-mutations-in-candidate-genes-for-congenital-eye-malformations-in-the-mexican-indigenous-population\/\">Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous population<\/a><time datetime=\"2025-12-18T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/18\/rs9789446-genotype-as-susceptibility-biomarkers-for-congenital-hypothyroidism-based-on-population-and-family-validation\/\">rs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validation<\/a><time datetime=\"2025-12-18T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/18\/case-report-umod-gene-mutation-and-phenotypic-overlap-with-ren-in-autosomal-dominant-tubulointerstitial-kidney-disease\/\">Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease<\/a><time datetime=\"2025-12-18T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/18\/expanding-the-spectrum-of-nus1-related-progressive-myoclonic-epilepsy-a-novel-variant-and-exploratory-use-of-metformin\/\">Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin<\/a><time datetime=\"2025-12-18T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/17\/lrrc56-deficiency-cause-motile-ciliopathies-in-humans-and-mice\/\">LRRC56 deficiency cause motile ciliopathies in humans and mice<\/a><time datetime=\"2025-12-17T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 17, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/16\/neonatal-onset-familial-hemophagocytic-lymphohistiocytosis-a-case-report-with-genetic-confirmation-of-prf1-mutations\/\">Neonatal-onset familial hemophagocytic lymphohistiocytosis: a case report with genetic confirmation of PRF1 mutations<\/a><time datetime=\"2025-12-16T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 16, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/16\/a-transcriptomic-atlas-at-bulk-and-single-cell-levels-identifies-novel-transcriptional-and-splicing-regulators-of-ecm-homeostasis-in-osteoarthritis\/\">A transcriptomic atlas at bulk and single-cell levels identifies novel transcriptional and splicing regulators of ECM homeostasis in osteoarthritis<\/a><time datetime=\"2025-12-16T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 16, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/08\/early-onset-arboleda-tham-syndrome-due-to-kat6a-variants-case-report\/\">Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report<\/a><time datetime=\"2025-12-08T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 8, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/05\/optical-genome-mapping-uncovers-clinically-relevant-structural-variants-in-congenital-heart-disease-with-heterotaxy\/\">Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy<\/a><time datetime=\"2025-12-05T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 5, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/01\/correction-individual-and-combined-effects-of-the-gstm1-gstt1-and-gstp1-polymorphisms-on-type-2-diabetes-mellitus-risk-a-systematic-review-and-meta-analysis\/\">Correction: Individual and combined effects of the GSTM1, GSTT1, and GSTP1 polymorphisms on type 2 diabetes mellitus risk: a systematic review and meta-analysis<\/a><time datetime=\"2025-12-01T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 1, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/01\/correction-mapt-mutation-induced-behavioral-variant-frontotemporal-dementia-in-an-asian-patient-a-multimodal-biomarker-case-report-resolving-diagnostic-challenges-with-alzheimers-disease\/\">Correction: MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer\u2019s disease<\/a><time datetime=\"2025-12-01T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 1, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/28\/type-1-bartter-syndrome-presenting-as-primary-diabetes-insipidus-a-rare-case-report-with-8-year-follow-up\/\">Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up<\/a><time datetime=\"2025-11-28T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 28, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/27\/case-report-developmental-delay-and-intellectual-disability-linked-to-a-maternally-inherited-derivative-chromosome-3-from-a-t38-translocation\/\">Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation<\/a><time datetime=\"2025-11-27T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 27, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/27\/correction-validation-of-a-genome-wide-polygenic-score-for-body-mass-index-in-south-asians\/\">Correction: Validation of a genome-wide polygenic score for body mass index in South Asians<\/a><time datetime=\"2025-11-27T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 27, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/26\/bag3-related-myofibrillar-myopathy-focus-on-its-cardiac-involvement\/\">BAG3-related myofibrillar myopathy: focus on its cardiac involvement<\/a><time datetime=\"2025-11-26T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 26, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/24\/application-of-trio-based-whole-exome-sequencing-in-fetal-ultrasound-anomalies-a-single-center-retrospective-study-of-454-cases\/\">Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases<\/a><time datetime=\"2025-11-24T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 24, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/case-report-mild-bric-like-cholestasis-despite-a-gross-usp53-deletion-novel-findings-and-literature-review\/\">Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion\u2014novel findings and literature review<\/a><time datetime=\"2025-11-21T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/20\/why-all-mody-variants-in-transcription-factor-genes-are-dominantly-inherited\/\">Why all MODY variants in transcription factor genes are dominantly inherited<\/a><time datetime=\"2025-11-20T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 20, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/19\/fto-rs9939609-and-rs17817449-polymorphisms-contribute-to-metabolic-syndrome-risk-by-increasing-triglyceride-and-glucose-levels\/\">FTO rs9939609 and rs17817449 polymorphisms contribute to metabolic syndrome risk by increasing triglyceride and glucose levels<\/a><time datetime=\"2025-11-19T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 19, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/18\/mapt-mutation-induced-behavioral-variant-frontotemporal-dementia-in-an-asian-patient-a-multimodal-biomarker-case-report-resolving-diagnostic-challenges-with-alzheimers-disease\/\">MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer\u2019s disease<\/a><time datetime=\"2025-11-18T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/17\/potential-marker-genes-for-psoriasis-revealed-based-on-single-cell-sequencing-and-mendelian-randomization-analysis\/\">Potential marker genes for psoriasis revealed based on single-cell sequencing and Mendelian randomization analysis<\/a><time datetime=\"2025-11-17T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 17, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/17\/phenotype-and-genetic-variation-analysis-of-primary-congenital-lymphedema-caused-by-flt4-gene-mutations-in-a-fetus\/\">Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutations in a fetus<\/a><time datetime=\"2025-11-17T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 17, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/14\/case-report-identification-and-functional-characterization-of-a-novel-heterozygous-splice-donor-c-6471ga-site-mutation-in-the-sptb-gene-that-causes-hereditary-spherocytosis-with-hemolytic-anem\/\">Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G&gt;A) site mutation in the SPTB gene that causes hereditary spherocytosis with hemolytic anemia<\/a><time datetime=\"2025-11-14T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 14, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/14\/familial-xq27-1q28-duplication-arising-from-a-maternal-interarm-forward-insertion-of-the-x-chromosome-a-case-report\/\">Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report<\/a><time datetime=\"2025-11-14T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 14, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/14\/novel-variant-in-pnpla6-gene-causes-oliver-mcfarlane-syndrome-in-a-chinese-family-13-years-follow-up\/\">Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up<\/a><time datetime=\"2025-11-14T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 14, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/12\/computational-experimental-strategy-identifies-co-upregulated-biomarkers-linking-coronary-heart-disease-and-type-2-diabetes-pathogenesis\/\">Computational-experimental strategy identifies Co-upregulated biomarkers linking coronary heart disease and type 2 diabetes pathogenesis<\/a><time datetime=\"2025-11-12T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 12, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/12\/case-report-compound-heterozygous-cep152-c-3346-5tc-variant-and-chr15-deletion-causing-recurrent-mcph-scks-in-a-chinese-pregnant-woman-across-two-consecutive-pregnancies\/\">Case Report: Compound heterozygous CEP152 c.3346-5T&gt;C variant and chr15 deletion causing recurrent MCPH\u2013SCKS in a Chinese pregnant woman across two consecutive pregnancies<\/a><time datetime=\"2025-11-12T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 12, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/11\/germline-activating-sequence-variations-in-rasopathy-spectrum-genes-genotype-phenotype-correlation-in-a-north-indian-cohort\/\">Germline activating sequence variations in RASopathy spectrum genes: genotype\u2013phenotype correlation in a North Indian cohort<\/a><time datetime=\"2025-11-11T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 11, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/07\/mechanistic-insights-into-nfix-frameshift-mutations-in-malan-syndrome-proteasomal-degradation-mediated-haploinsufficiency\/\">Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency<\/a><time datetime=\"2025-11-07T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 7, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/07\/precision-genomic-profiling-in-gaucher-disease-insights-from-atypical-presentations\/\">Precision genomic profiling in Gaucher disease: insights from atypical presentations<\/a><time datetime=\"2025-11-07T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 7, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/07\/case-report-whole-exome-sequencing-revealed-a-de-novo-variant-in-setbp1-gene-in-a-chinese-family-with-developmental-delay\/\">Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay<\/a><time datetime=\"2025-11-07T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 7, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/07\/correction-a-novel-splicing-variant-in-nbas-identified-by-minigene-assay-causes-infantile-liver-failure-syndrome-type-2\/\">Correction: A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2<\/a><time datetime=\"2025-11-07T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 7, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/06\/case-report-autosomal-dominant-distal-motor-neuropathy-as-a-new-phenotype-of-kif21a-related-disorders\/\">Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders<\/a><time datetime=\"2025-11-06T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 6, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/06\/a-rare-case-of-de-novo-20p12-3-microdeletion-syndrome-in-a-nine-year-old-female-case-report-and-literature-review\/\">A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review<\/a><time datetime=\"2025-11-06T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 6, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/06\/case-report-d-bifunctional-protein-deficiency-caused-by-novel-compound-heterozygote-hsd17b4-variants-in-a-neonate-in-china\/\">Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China<\/a><time datetime=\"2025-11-06T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 6, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/06\/case-report-novel-compound-heterozygous-mutations-in-pnpla6-gene-associated-with-oliver-mcfarlane-syndrome\/\">Case Report: Novel compound heterozygous mutations in PNPLA6 gene associated with Oliver-McFarlane syndrome<\/a><time datetime=\"2025-11-06T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 6, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/29\/megalencephalic-leukoencephalopathy-with-subcortical-cysts-a-variant-update-and-review-of-the-literature\/\">Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature<\/a><time datetime=\"2024-02-29T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 29, 2024<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/26\/functional-polymorphisms-of-nos3-and-gucy1a3-affect-both-nitric-oxide-formation-and-association-with-hypertensive-disorders-of-pregnancy\/\">Functional polymorphisms of NOS3 and GUCY1A3 affect both nitric oxide formation and association with hypertensive disorders of pregnancy<\/a><time datetime=\"2024-02-26T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 26, 2024<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/15\/brain-function-in-classic-galactosemia-a-galactosemia-network-galnet-members-review\/\">Brain function in classic galactosemia, a galactosemia network (GalNet) members review<\/a><time datetime=\"2024-02-15T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 15, 2024<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/15\/corrigendum-case-report-de-novo-mutation-of-a-galactosidase-a-in-a-female-patient-with-end-stage-renal-disease-report-of-a-case-of-late-diagnosis-of-anderson-fabry-disease\/\">Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson\u2013Fabry disease<\/a><time datetime=\"2024-02-15T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 15, 2024<\/time><\/li>\n<li><div class=\"wp-block-latest-posts__featured-image\"><a href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/12\/mecp2-related-disorders-while-gene-based-therapies-are-on-the-horizon\/\" aria-label=\"MECP2-related disorders while gene-based therapies are on the horizon\"><img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/sebigec.es\/blog\/wp-content\/uploads\/2024\/01\/frontiers-in-genetics-cover-150x150.png\" class=\"attachment-thumbnail size-thumbnail wp-post-image\" alt=\"\" style=\"\" \/><\/a><\/div><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/12\/mecp2-related-disorders-while-gene-based-therapies-are-on-the-horizon\/\">MECP2-related disorders while gene-based therapies are on the horizon<\/a><time datetime=\"2024-02-12T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 12, 2024<\/time><\/li>\n<li><div class=\"wp-block-latest-posts__featured-image\"><a href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/12\/spectrum-of-genetic-variants-in-bilateral-sensorineural-hearing-loss\/\" aria-label=\"Spectrum of genetic variants in bilateral sensorineural hearing loss\"><img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/sebigec.es\/blog\/wp-content\/uploads\/2024\/01\/frontiers-in-genetics-cover-150x150.png\" class=\"attachment-thumbnail size-thumbnail wp-post-image\" alt=\"\" style=\"\" \/><\/a><\/div><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/12\/spectrum-of-genetic-variants-in-bilateral-sensorineural-hearing-loss\/\">Spectrum of genetic variants in bilateral sensorineural hearing loss<\/a><time datetime=\"2024-02-12T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 12, 2024<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/12\/novel-foxl2-variants-in-two-chinese-families-with-blepharophimosis-ptosis-and-epicanthus-inversus-syndrome\/\">Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome<\/a><time datetime=\"2024-02-12T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 12, 2024<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/09\/case-report-preimplantation-genetic-testing-for-infantile-gm1-gangliosidosis\/\">Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis<\/a><time datetime=\"2024-02-09T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 9, 2024<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/06\/prevalence-of-inherited-metabolic-disorders-among-newborns-in-zhuzhou-a-southern-city-in-china\/\">Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China<\/a><time datetime=\"2024-02-06T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 6, 2024<\/time><\/li>\n<li><div class=\"wp-block-latest-posts__featured-image\"><a href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/01\/31\/case-report-identification-of-a-novel-variant-p-gly215arg-in-the-chn1-gene-causing-moebius-syndrome\/\" aria-label=\"Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome\"><img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/sebigec.es\/blog\/wp-content\/uploads\/2024\/01\/frontiers-in-genetics-cover-150x150.png\" class=\"attachment-thumbnail size-thumbnail wp-post-image\" alt=\"\" style=\"\" \/><\/a><\/div><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/01\/31\/case-report-identification-of-a-novel-variant-p-gly215arg-in-the-chn1-gene-causing-moebius-syndrome\/\">Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome<\/a><time datetime=\"2024-01-31T00:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 31, 2024<\/time><\/li>\n<\/ul>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":462,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-476","page","type-page","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/pages\/476","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=476"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/pages\/476\/revisions"}],"predecessor-version":[{"id":477,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/pages\/476\/revisions\/477"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media\/462"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=476"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}