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The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea

Yun KW, Chae SA, Lee JJ, Yun SW, Yoo BH, Lim IS, Choi ES, Lee MK

Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in...
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