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

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...

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Bibliographic Details
Main Authors: Kantaputra P.N., Chinadet W., Ohazama A., Kono M.
Format: Article
Language:English
Published: 2014
Online Access:http://www.scopus.com/inward/record.url?eid=2-s2.0-84865564491&partnerID=40&md5=a3eae6188ba766eec08533e25ebe245f
http://cmuir.cmu.ac.th/handle/6653943832/1139
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Institution: Chiang Mai University
Language: English

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