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  • Title: Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
    Author: Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, Weissenbach J, Mansour S, Young ID, Goodfellow PN.
    Journal: Nature; 1994 Dec 08; 372(6506):525-30. PubMed ID: 7990924.
    Abstract:
    Induction of testis development in mammals requires the presence of the Y-chromosome gene SRY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.
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