Article
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.
Clinical genetics - 1 Jul 2016
Leslie E J, Koboldt D C, Kang C J, Ma L, Hecht J T, Wehby G L, Christensen K, Czeizel A E, Deleyiannis F W-B, Fulton R S, Wilson R K, Beaty T H, Schutte B C, Murray J C, Marazita M L
Abstract excerpt
Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS is variable and can present as an isolated OFC, making it difficult to distinguish VWS cases from individuals with non-syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs....
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