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

• المؤلفون الرئيسيون: Kantaputra P.N., Chinadet W., Ohazama A., Kono M.
• التنسيق: مقال
• اللغة: English
• منشور في: 2014
• الوصول للمادة أونلاين: http://www.scopus.com/inward/record.url?eid=2-s2.0-84865564491&partnerID=40&md5=a3eae6188ba766eec08533e25ebe245f; http://cmuir.cmu.ac.th/handle/6653943832/1139
• المؤسسة: Chiang Mai University

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...