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Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome.

International journal of molecular medicine - 1 Nov 2005

Ye Xiao-Qian, Jin Hui-Xi, Shi Li-Song, Fan Ming-Wen, Song Guang-Tai, Fan Hua-Li, Bian Zhuan

Abstract excerpt

Van der Woude syndrome (VWS) is an autosomal dominant disorder of syndromic clefts clinically characterized by lower lip pits, cleft lip and/or palate, hypodontia. Mutations in the IRF6 gene have recently been found to cause VWS and more than 70 mutations have been reported. However, genotype distribution and prevalence of IRF6 mutations underlying Chinese are largely unknown. In the present study, we report on...

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PMID: 16211254

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome.PMID 16211254Read ↗

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

A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.Semantic proximity Read ↗

Identification of IRF6 gene variants in three families with Van der Woude syndrome.Semantic proximity Read ↗

Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.Semantic proximity Read ↗

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

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Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome.Semantic proximity Read ↗

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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