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 C...
Topics
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Disorders of Sex Development
- Female
- Haplotypes
- High Mobility Group Proteins
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational