Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency. [electronic resource]
Producer: 20160523Description: 116-23 p. digitalISSN:- 1663-2826
- Adolescent
- Adrenal Insufficiency
- Amenorrhea -- etiology
- Animals
- COS Cells
- Child
- Child, Preschool
- Chlorocebus aethiops
- DNA Mutational Analysis
- Disorder of Sex Development, 46,XY -- genetics
- Exons
- Female
- Genitalia, Female -- pathology
- Humans
- Introns
- Male
- Mutation -- genetics
- Pedigree
- Puberty
- Sexual Maturation -- genetics
- Steroidogenic Factor 1 -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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