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  • Title: A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report.
    Author: Kurosawa K, Asoh M, Akatsuka A, Matsuo T, Ochiai Y, Maekawa K.
    Journal: Jpn J Hum Genet; 1996 Sep; 41(3):329-32. PubMed ID: 8996969.
    Abstract:
    X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is characterized by severe mental retardation, wide range of minor abnormalities, and association with an unusual form of alpha-thalassemia. Fifty patients in Caucasian origin have been reported. This is the second report of the syndrome demonstrated in Oriental patients.
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