Novel SOX9 Gene Mutation in Campomelic Dysplasia with Autosomal Sex Reversal
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference16 articles.
1. The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971;Houston;Am J Med Genet,1983
2. A clinical and genetic study of campomelic dysplasia;Mansour;J Med Genet,1995
3. Cam-pomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene;Foster;Nature,1994
4. Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia;McDowall;J Biol Chem,1999
5. Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds;Morais da Silva;Nat Genet,1996
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