Article
Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
Cytogenetics and cell genetics - 1 Jan 1998
Scherer G, Held M, Erdel M, Meschede D, Horst J, Lesniewicz R, Midro A T
Abstract excerpt
Mutations in the Y-located testis-determining gene SRY are one cause for XY sex reversal. We have previously identified four SRY mutations in a total of 45 sex-reversed females with XY gonadal dysgenesis (XY GD). In a new sample of 16 XY GD cases, three previously undescribed SRY mutations were i...
Topics
- Adolescent
- Adult
- DNA-Binding Proteins
- Female
- Gonadal Dysgenesis, 46,XY
- Humans
- Mutation
- Nuclear Proteins
- Sex-Determining Region Y Protein
- Transcription Factors