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

doi:10.1093/hmg/3.4.575

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Article

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

Human molecular genetics - 1 Apr 1994

Sander A, Schmelzle R, Murray J

Abstract excerpt

Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder representing the most frequent form of syndromic cleft lip and palate. Other characteristic features are pits of the lower lip and hypodontia. The gene shows high penetrance and seems to play an important role in orofacia...

Topics

Abnormalities, Multiple
Adult
Alleles
Anodontia
Base Sequence
Child
Chromosome Mapping
Chromosomes, Human, Pair 1
Cleft Lip
Cleft Palate
Female
Genetic Markers
Humans
Lip
Lod Score
Male
Molecular Sequence Data
Pedigree

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