Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia
Robyn M. Hageman
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia
Search for more papers by this authorFergus J. Cameron
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia
Search for more papers by this authorCorresponding Author
Andrew H. Sinclair
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia
Dept. of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia. Fax: 613-9345-6000Search for more papers by this authorRobyn M. Hageman
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia
Search for more papers by this authorFergus J. Cameron
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia
Search for more papers by this authorCorresponding Author
Andrew H. Sinclair
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia
Dept. of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia. Fax: 613-9345-6000Search for more papers by this author
References
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- Cameron FJ, Hageman RM, Cooke-Yarborough C, Goodwin LL, Sillence DO, Sinclair AH (1996) A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. Hum Mol Genet 5: 1625–1630.
- Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ (1994) Campomelic dysplasia and autosomal sex-reversal caused by mutations in an SRY-related gene. Nature 372: 525–530.
- Kent J, Wheatley SC, Andrews JE, Sinclair AH, Koopman P (1996) A male-specific role for SOX9 in vertebrate sex determination. Development 122: 2813–2822.
- Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HH, Dominguez-Steglich MA, Brook JD, Young ID, Goodfellow PN, Schafer AJ (1995) Mutations in SOX9, the gene responsible for campomelic dysplasia and sex reversal. Am J Hum Genet 57: 1028–1036.
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