Article
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: report of a novel ADAR1 mutation.
American journal of medical genetics. Part A - 1 Sept 2012
Kantaputra Piranit Nik, Chinadet Wannapa, Ohazama Atsushi, Kono Michihiro
Abstract excerpt
We report on a father and his two children who are affected with dyschromatosis symmetrica hereditaria (DSH). Mutation analysis of ADAR1 gene demonstrated a novel splice acceptor site mutation in intron 10, IVS10-2A>C. The hair on the forearm of the affected father became longer, larger in diameter, and hypopigmented (white) after age 40 years. Hyperpigmented hair was also found in normal and hypopigmented skin....
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