Article
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
Human genetics - 1 May 1998
DeStefano A L, Cupples L A, Arnos K S, Asher J H, Baldwin C T, Blanton S, Carey M L, da Silva E O, Friedman T B, Greenberg J, Lalwani A K, Milunsky A, Nance W E, Pandya A, Ramesar R S, Read A P, Tassabejhi M, Wilcox E R, Farrer L A
Abstract excerpt
Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and skin, and dystopia canthorum. The phenotype is variable and affected individuals may exhibit only one or a combination of several of the associated features. To assess the relationship between phenotype and gene defect, clinical and genotype data on 48...
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