{"id":11375,"date":"2026-02-19T17:00:00","date_gmt":"2026-02-19T17:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=a3841f954652f65e50036d3b7a91d80e"},"modified":"2026-02-19T23:00:00","modified_gmt":"2026-02-19T23:00:00","slug":"bi-allelic-variants-in-fsd1l-cause-a-neurodevelopmental-disorder-overlapping-with-l1-syndrome","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/19\/bi-allelic-variants-in-fsd1l-cause-a-neurodevelopmental-disorder-overlapping-with-l1-syndrome\/","title":{"rendered":"Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome"},"content":{"rendered":"This study associates bi-allelic variants in FSD1L with a neurodevelopmental disorder closely resembling L1 syndrome, mainly characterized by hydrocephalus and corpus callosum defects. Functional experiments demonstrate that FSD1L encodes a microtubule-associated protein implicated in neuronal differentiation, cell division, cilia formation, axon guidance, and fasciculation.","protected":false},"excerpt":{"rendered":"<p>This study associates bi-allelic variants in FSD1L with a neurodevelopmental disorder closely resembling L1 syndrome, mainly characterized by hydrocephalus and corpus callosum defects. Functional experiments demonstrate that FSD1L encodes a microtubule&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,41],"tags":[48],"class_list":["post-11375","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-american-journal-of-human-genetics","tag-amjhumgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11375","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=11375"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11375\/revisions"}],"predecessor-version":[{"id":11468,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11375\/revisions\/11468"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=11375"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=11375"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=11375"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}