Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 372 (6506), 525-30

Campomelic Dysplasia and Autosomal Sex Reversal Caused by Mutations in an SRY-related Gene

Affiliations

Campomelic Dysplasia and Autosomal Sex Reversal Caused by Mutations in an SRY-related Gene

J W Foster et al. Nature.

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.

Similar articles

See all similar articles

Cited by 341 PubMed Central articles

See all "Cited by" articles

Publication types

MeSH terms

Associated data

LinkOut - more resources

Feedback