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A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Jul 2017

Tan Ene-Choo, Lim Hwee-Woon, Lim Eileen C P, Lee Seng-Teik

Abstract excerpt

Van der Woude syndrome (VWS) is a rare autosomal dominant genetic disorder characterized by orofacial clefting and lip pits. Mutations in the transcription factor interferon regulatory factor 6 gene (IRF6) have been identified in individuals with VWS. We performed direct sequencing of the gene for molecular investigation of a proband with Bangladeshi-Malay ancestry. A novel transition mutation (c.113T>C), which...

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PMID: 27243668
DOI: 10.1597/15-327

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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