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Article

Confirmation of linkage of Van der Woude syndrome to chromosome 1q32: evidence of association with STR alleles suggests possible unique origin of the disease mutation.

Journal of craniofacial genetics and developmental biology - 1 Jan 2000

Beiraghi S, Miller-Chisholm A, Kimberling W J, Sun C E, Wang Y F, Russell L J, Khoshnevisan M, Storm A L, Long R E, Witt P D, Mazaheri M, Diehl S R

Abstract excerpt

Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder with high penetrance and variable expression. Its clinical features are variably expressed, but include cleft lip and/or cleft palate, lip pits and hypodontia. All VWS families studied to date map the disease gene to a < 2 cM region of chromosome 1q32, with no evidence of locus heterogeneity. The aim of this study is to refine the...

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PMID: 10589394

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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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Confirmation of linkage of Van der Woude syndrome to chromosome 1q32: evidence of association with STR alleles suggests possible unique origin of the disease mutation.PMID 10589394Read ↗

Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome.Semantic proximity Read ↗

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