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Article

Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.

European journal of medical genetics - 1 Jun 2012

Salahshourifar Iman, Wan Sulaiman Wan Azman, Halim Ahmad Sukari, Zilfalil Bin Alwi

Abstract excerpt

Non-syndromic oral clefts share the main clinical features of Van der Woude Syndrome (VWS), with the exception of the lower lip pit. Thus, about 15% of VWS cases are indistinguishable from cases with non-syndromic oral clefts. IRF6 mutations are the major cause of VWS; however, variants in this gene show strong association with non-syndromic oral clefts, with a higher increased risk among cases with cleft lip...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22440537
DOI: 10.1016/j.ejmg.2012.02.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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