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Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.

International journal of molecular medicine - 1 Oct 2008

Paranaíba Lívia Máris Ribeiro, Martelli-Júnior Hercílio, Oliveira Swerts Mário Sergio, Line Sergio R P, Coletta Ricardo D

Abstract excerpt

Van der Woude Syndrome (VWS) is an autosomal craniofacial disorder characterized by lower lip pits and cleft lip and/or palate. Mutations in the interferon regulatory factor 6 (IRF6) gene have been identified in patients with VWS. To identify novel IRF6 mutations in patients affected by VWS, we screened 2 Brazilian families, sequencing the entire IRF6-coding region and flanking intronic boundaries. Two novel...

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PMID: 18813858

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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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