Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.

Woo, Kyu Ha

Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency. [electronic resource] - Hormone research in paediatrics 2015 - 116-23 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1663-2826

10.1159/000431324 doi


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