Article
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
Human molecular genetics - 1 Jan 1997
Meyer J, Südbeck P, Held M, Wagner T, Schmitz M L, Bricarelli F D, Eggermont E, Friedrich U, Haas O A, Kobelt A, Leroy J G, Van Maldergem L, Michel E, Mitulla B, Pfeiffer R A, Schinzel A, Schmidt H, Scherer G
Abstract excerpt
It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one recurrent mutation were characterized in one SOX9 allele each, and in one case...
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