Identification of a novel DSRAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria.

Abstract excerpt

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the limbs. Genetic studies have identified mutations in the DSRAD gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. In this study, we identified a novel mutation of DSRAD gene in a...

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