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| CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL CAUSED BY MUTATIONS IN AN SRY-RELATED GENE |
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| Author(s): FOSTER JW, DOMINGUEZSTEGLICH MA, GUIOLI S, KWOK C, WELLER PA, STEVANOVIC M, WEISSENBACH J, MANSOUR S, YOUNG ID, GOODFELLOW PN, BROOK JD, SCHAFER AJ |
| Source: NATURE Volume: 372 Issue: 6506 Pages: 525-530 Published: DEC 8 1994 |
| Times Cited: 763 References: 44 |
| 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV CAMBRIDGE, DEPT GENET, CAMBRIDGE CB2 3EH, ENGLAND
2. CITY HOSP, CTR MED GENET, NOTTINGHAM, ENGLAND
3. UNIV NOTTINGHAM, QUEENS MED CTR, DEPT GENET, NOTTINGHAM NG7 2UH, ENGLAND
4. LAB GENETHON, F-91002 EVRY, FRANCE
5. INST CHILD HLTH, LONDON WC1N 1EH, ENGLAND |
| Publisher: MACMILLAN MAGAZINES LTD, PORTERS SOUTH, 4 CRINAN ST, LONDON, ENGLAND N1 9XW |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: PW082 |
| ISSN: 0028-0836 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |