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

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

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,...

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Bibliographic Details
Main Authors: Moghe G, Kaur M, Thomas A, Raseswari T, Swapna M, Rao L
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2010-06-01
Series:Journal of Indian Society of Pedodontics and Preventive Dentistry
Subjects:
Fluorescent in situ hybridization
interferon regulatory factor mutations
lower lip pits
multicolor chromosome banding
orofacial clefting syndromes
Online Access:http://www.jisppd.com/article.asp?issn=0970-4388;year=2010;volume=28;issue=2;spage=104;epage=109;aulast=Moghe

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http://www.jisppd.com/article.asp?issn=0970-4388;year=2010;volume=28;issue=2;spage=104;epage=109;aulast=Moghe

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