Please use this identifier to cite or link to this item:
https://biore.bio.bg.ac.rs/handle/123456789/2557| Title: | Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene |
| Authors: | Foster, Jamie W. Dominguez-Steglich, Marina A. Guioli, Silvana Kwok, Cheni Weller, Polly A. Stevanović, Milena Weissenbach, Jean Mansour, Sahar Young, Ian D. Goodfellow, Peter N. Brook, J. David Schafer, Alan J. |
| Issue Date: | 8-Dec-1994 |
| Journal: | Nature |
| Abstract: | Induction of testis development in mammals requires the presence of the Y-chromosome gene SPY. 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. |
| URI: | https://biore.bio.bg.ac.rs/handle/123456789/2557 |
| ISSN: | 0028-0836 |
| DOI: | 10.1038/372525a0 |
| Appears in Collections: | Journal Article |
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| File | Description | Size | Format | Existing users please |
|---|---|---|---|---|
| foster1994Nature.PDF | 836.66 kB | Adobe PDF | Request a copy |
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