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Am J Med Genet. 1995 Jan 30;55(3):285-7.

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.

Author information

1
Department of Clinical Genetics and Fetal Medicine, Hospital for Sick Children, London, United Kingdom.

Abstract

Genital abnormalities have been noted in several patients with the X-linked form of alpha-thalassemia and mental retardation syndrome (ATR-X). The initial clinical report of the condition documented a phenotypic female with 46,XY karyotype. To this we now add 2 further siblings with abnormalities of the external genitalia, manifesting as male pseudohermaphroditism.

PMID:
7726224
DOI:
10.1002/ajmg.1320550308
[Indexed for MEDLINE]

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