Article
No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia.
Annales de genetique - 1 Jan 1991
Ebensperger C, Jäger R J, Lattermann U, Dagna Bricarelli F, Keutel J, Lindsten J, Rehder H, Müller U, Wolf U
Abstract excerpt
Campomelic dysplasia (Cd) occurs combined with sex reversal resulting in XY females. The recent identification of candidate genes for sex determination/differentiation and of a sex determining region on the human Y chromosome prompted the authors to study these genes for mutations in patients with Cd and sex reversal. In a total of five cases, no evidence for a mutation in the genes SRY, ZFY, ZFX, MEA and some...
Topics
- Base Sequence
- Disorders of Sex Development
- Female
- Humans
- Immunoblotting
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias
- Polymerase Chain Reaction