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Article

Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome.

International journal of molecular medicine - 1 Oct 2003

Kim Youngho, Park Jung-Young, Lee Tak-Jong, Yoo Han-Wook

Abstract excerpt

Van der Woude syndrome (VWS) is the most common autosomal dominant disorder with characteristic lip pits and clefts of the lip and/or palate (CL/P). The interferon regulatory factor 6 gene (IRF6) has been recently identified as the gene mutated in patients with VWS. Here, we report two novel mutations of IRF6 in two unrelated Korean families with VWS. A frame-shift mutation, 399delC, was identified from a family...

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PMID: 12964020

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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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