Ontology highlight
ABSTRACT:
SUBMITTER: Leslie EJ
PROVIDER: S-EPMC4783275 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Leslie E J EJ Koboldt D C DC Kang C J CJ Ma L L Hecht J T JT Wehby G L GL Christensen K K Czeizel A E AE Deleyiannis F W-B FW Fulton R S RS Wilson R K RK Beaty T H TH Schutte B C BC Murray J C JC Marazita M L ML
Clinical genetics 20151001 1
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. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in seve ...[more]