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Article

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2013

Leslie Elizabeth J, Standley Jennifer, Compton John, Bale Sherri, Schutte Brian C, Murray Jeffrey C

Abstract excerpt

PURPOSE: Mutations in the transcription factor IRF6 cause allelic autosomal dominant clefting syndromes, Van der Woude syndrome, and popliteal pterygium syndrome. We compared the distribution of IRF6 coding and splice-site mutations from 549 families with Van der Woude syndrome or popliteal pterygium syndrome with that of variants from the 1000 Genomes and National Heart, Lung, and Blood Institute Exome...

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Identifiers

PMID: 23154523
DOI: 10.1038/gim.2012.141
PMCID: PMC3723330

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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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