Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. [electronic resource]
Producer: 20120926Description: E1294-306 p. digitalISSN:- 1945-7197
- 46, XX Disorders of Sex Development -- complications
- Adolescent
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- Disorder of Sex Development, 46,XY -- genetics
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Molecular Sequence Data
- Phenotype
- Point Mutation -- physiology
- Primary Ovarian Insufficiency -- complications
- Steroidogenic Factor 1 -- genetics
- Young Adult
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Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
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