Categoría: SHORT COMMUNICATION
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DYNC2H1 splicing variants causing severe prenatal short‐rib polydactyly syndrome and postnatal orofaciodigital syndrome
Annals of Human Genetics, EarlyView.
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First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants
Annals of Human Genetics, EarlyView.
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Nonsense suppression induces read‐through of a novel BMPR1A variant in a Chinese family with hereditary colorectal cancer
Annals of Human Genetics, EarlyView.