doi: 10.1038/372525a0.
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
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- PMID: 7990924
- DOI: 10.1038/372525a0
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Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
Nature.
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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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