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  • Title: Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
    Author: Reardon W, Gibbons RJ, Winter RM, Baraitser M.
    Journal: Am J Med Genet; 1995 Jan 30; 55(3):285-7. PubMed ID: 7726224.
    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.
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