Article
Two new mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.
Archives of dermatological research - 1 Aug 2010
Li Cheng-Rang, Xu Xiu-Lian, Sun Xin-Jun, Zong Wen-Kai, Sheng Nan, Bu Jin, Li Ming, Cui Pan-Gen
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. Genetic studies have identified mutations in ADAR1 gene to be responsible for this disorder. We detected two mutations in two families with DSH, which include a heterozygous g-->a...
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