Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene - PubMed

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• PMID: 7990924
• DOI: 10.1038/372525a0

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

J W Foster et al. Nature. 1994.

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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