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Article

Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family.

Genetics research - 10 Oct 2014

Manjegowda Dinesh S, Prasad Manu, Veerappa Avinash M, Ramachandra Nallur B

Abstract excerpt

Summary Van der Woude syndrome (VWS) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, cleft palate and other malformations. We performed a whole-genome copy number variations (CNVs) scan in an Indian family with members suffering from VWS using 2·6 million combined SNP and CNV markers. We found CNVs affecting IRF6, a known candidate gene for VWS,...

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Identifiers

PMID: 25579819
DOI: 10.1017/S0016672314000159
PMCID: PMC7045075

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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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