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Article

Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.

International journal of molecular medicine - 1 Feb 2005

Item Chike Bellarmine, Turhani Dritan, Thurnher Dietmar, Yerit Kaan, Sinko Klaus, Wittwer Gert, Adeyemo Wasiu Lanre, Frei Klemens, Erginel-Unaltuna Nihan, Watzinger Franz, Ewers Rolf

Abstract excerpt

Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), lip pits, bifid uvula and hypodontia. Mutations of the interferon regulatory factor 6 gene (IRF6) have been recently described in patients with VWS. The entire 9 exons of the IRF6 gene in two brothers of Turkish origin clinically diagnosed with Van der Woude syndrome and four healthy family...

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PMID: 15647839

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Related research

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Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.PMID 15647839Read ↗

Identification of two novel mutations of IRF6 in Korean families affected 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 ↗

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

A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.Semantic proximity Read ↗

Novel mutations in the IRF6 gene for Van der Woude syndrome.Semantic proximity Read ↗

A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome.Semantic proximity Read ↗

Novel IRF6 mutations in Chinese patients with Van der Woude syndrome.Semantic proximity Read ↗

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

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 ↗

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

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.Semantic proximity Read ↗

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