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Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Jul 2024

Yang Cheng-Wei, Yin Bin, Shi Jia-Yu, Shi Bing, Jia Zhong-Lin

Abstract excerpt

The purpose of this study is to analyze the clinical characteristics of patients with Van der Woude syndrome (VWS) and to detect variations in each patient. Finally, the combination of genotype and phenotype can make a clear diagnosis of VWS patients with different phenotype penetrance. Five Chinese VWS pedigree were enrolled. Whole exome sequencing of the proband was performed, and the potential pathogenic...

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Identifiers

PMID: 36866619
DOI: 10.1177/10556656231157575

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.PMID 36866619Read ↗

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Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndromeSemantic proximity Read ↗

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