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Article

A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.

Mutation research - 22 Mar 2004

Gatta Valentina, Scarciolla Oronzo, Cupaioli Massimo, Palka Chiara, Chiesa Pierluigi Lelli, Stuppia Liborio

Abstract excerpt

Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, being characterised by variable association of lower lip pits, cleft lip and cleft palate. VWS is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity, and a gene for this disease has been mapped in 1q32-q41. Very recently, mutations of the interferon regulatory factor 6 (IRF6) gene have been...

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Identifiers

PMID: 15013698
DOI: 10.1016/j.mrfmmm.2003.11.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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