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Article

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome.

American journal of medical genetics. Part A - 1 Nov 2009

Yeetong Patra, Mahatumarat Charan, Siriwan Pichit, Rojvachiranonda Nond, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

Van der Woude syndrome (VWS) is a dominantly inherited disorder characterized by cleft lip with or without cleft palate and lip pits. It remains the most common syndromic form of oral clefts. Mutations in the interferon regulatory factor 6 (IRF6) gene have been identified in patients with VWS. We reported three unrelated families with lower lip anomalies. Two had lower lip pits, a cardinal sign of VWS, but the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19842205
DOI: 10.1002/ajmg.a.33048

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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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