Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
- 1 December 1994
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature
- Vol. 372 (6506), 525-530
- https://doi.org/10.1038/372525a0
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.This publication has 35 references indexed in Scilit:
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