Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate
genes have been discovered through synergy of animal models and human genetics …

Purpose: Mutations in the transcription factor IRF6 cause allelic autosomal dominant clefting
syndromes, Van der Woude syndrome, and popliteal pterygium syndrome. We compared …

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 …

Several mutations in the IRF6 gene have been identified as a causative link to VWS. In this
investigation, whole-exome sequencing (WES) and Sanger sequencing of a three …

IRF6 and RIPK4 are critical regulators of keratinocyte differentiation and their mutation
cause the developmental syndromes Van der Woude syndrome (VWS) and Bartsocas …

Abstract Objectives/Hypothesis: Cleft lip with or without cleft palate (CL/P) is a common birth
defect throughout the world. Linkage studies have shown interferon regulatory factor 6 …

The etiology of clefting of the labiopalatal ensemble that constitutes the central complex of
the entrance to the oral cavity is best understood from the developmental phenomena …

Background Orofacial clefts are congenital malformations of the orofacial region, with a
global incidence of one per 700 live births. Interferon Regulatory Factor 6 (IRF 6)(OMIM …

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 …

Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial,
syndromic OFCs (syOFCs) are often caused by single mutations in known genes. Some …