Article
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.
American journal of human genetics - 1 Nov 1995
Kwok C, Weller P A, Guioli S, Foster J W, Mansour S, Zuffardi O, Punnett H H, Dominguez-Steglich M A, Brook J D, Young I D
Abstract excerpt
Campomelic dysplasia (CD) is a skeletal malformation syndrome frequently accompanied by 46,XY sex reversal. A mutation-screening strategy using SSCP was employed to identify mutations in SOX9, the chromosome 17q24 gene responsible for CD and autosomal sex reversal in man. We have screened seven CD patients with no cytologically detectable chromosomal aberrations and two CD patients with chromosome 17...
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