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A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report
K Kurosawa1, M Asoh, A Akatsuka
1Department of Pediatrics, Tokyo Metropolitan Kita Medical Rehabilitation Center for The Handicapped, Japan.
The Japanese Journal of Human Genetics
|September 1, 1996
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.