The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree

• Asıl Yazarlar: Moghe G (Yazar), Kaur M (Yazar), Thomas A (Yazar), Raseswari T (Yazar), Swapna M (Yazar), Rao L (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications, 2010-06-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Van der Woude syndrome (VWS) (OMIM 119300) is a dominantly inherited developmental disorder that is characterized by pits and/or sinuses of the lower lip and cleft lip and/or cleft palate. Mutations in the interferon regulatory factor 6 gene (IRF6) have been recently identified in patients with VWS,...