Article
A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.
Clinical and experimental dermatology - 1 Sept 2004
Li M, Jiang Y X, Liu J B, Yang S, He P P, Gao M, Wei S C, Yan K L, Huang W, Zhang X J
Abstract excerpt
Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.