Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel ADAR1 mutation

• Main Authors: Piranit Nik Kantaputra, Wannapa Chinadet, Atsushi Ohazama, Michihiro Kono
• 格式: 雜誌
• 出版: 2018
• 主題: Biochemistry, Genetics and Molecular Biology; Medicine
• 在線閱讀: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84865564491&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/51363

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 diamet...