We performed a meta-analysis of the association of transforming growth factor α gene
(TGFA) polymorphisms with the risk of cleft lip with or without cleft palate (CL/P) or cleft …

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 …

Mutation in interferon regulatory factor 6 (IRF6) is known to cause syndromic and non-
syndromic cleft lip/palate in human. In this study, we investigated the molecular mechanisms …

Craniofacial malformations, including orofacial clefting (OFC) and craniosynostosis (CS), are
among the most common of birth defects. Most craniofacial malformations are sporadic …

Orofacial clefts (OFC) are complex genetic traits that are often classified as syndromic or
nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online …

Objective To survey the frequency and pattern of family history for non‐syndromic orofacial
clefts (NSOFC). Initial hypothesis: more complex forms have a higher frequency of positive …

Abstract Background Interferon Regulatory Factor 6 (IRF6) is a member of the IRF family of
transcription factors. It has been suggested to be an important contributor to orofacial …

Background To date, there are over 320 variants identified in the IRF6 gene that cause Van
der Woude syndrome or popliteal pterygium syndrome. We sequenced this gene in a South …

Background DNA copy number variants play an important part in the development of
common birth defects such as oral clefts. Individual patients with multiple birth defects …

Objective Subjects with cleft lip and palate (CLP) present high prevalence of dental
agenesis. Among candidate genes for these phenotypes is IRF6. However, genetic studies …