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Article

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

The Journal of craniofacial surgery - 1 Sept 2010

Scioletti Anna Paola, Brancati Francesco, Gatta Valentina, Antonucci Ivana, Peissel Bernard, Pizzuti Antonio, Mortellaro Carmen, Tetè Stefano, Gherlone Enrico, Palka Giandomenico, Stuppia Liborio

Abstract excerpt

van der Woude syndrome (VWS) is a rare autosomal dominant oral facial disorder characterized by high penetrance and variable expression, manifesting with lower lip pits, cleft lips with or without cleft palate, and isolated cleft palate. The phenotypic expression of clefts ranges from incomplete to complete. Different studies have demonstrated an association between VWS and mutations of the IRF6 (interferon...

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Identifiers

PMID: 20856073
DOI: 10.1097/SCS.0b013e3181ef69ef

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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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Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome.PMID 20856073Read ↗

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A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.Semantic proximity Read ↗

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

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

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