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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Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
2014
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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 |