Article
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.
Clinical genetics - 1 Sept 2010
Malik S, Kakar N, Hasnain S, Ahmad J, Wilcox E R, Naz S
Abstract excerpt
Mutations in IRF6 cause Van der Woude syndrome (VWS), one of the most common syndromes associated with cleft lip (CL) with or without cleft palate (CP). The presence of pits on the lower lip of patients is the most characteristic feature of the syndrome. We have identified three novel and seven p...
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