Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia
β Scribed by Robyn M. Hageman; Fergus J. Cameron; Andrew H. Sinclair
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 209 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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Campomelic dysplasia is a malformation syndrome with multiple symptoms including characteristic shortness and bowing of the long bones (campomelia). CD, often lethal due to airway malformations, is caused by heterozygous mutations in SOX9, an SRY-related gene regulating testis and chondrocyte develo
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