NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes
NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes
About this item
Full title
Author / Creator
Publisher
Basel, Switzerland: S. Karger AG
Journal title
Language
English
Formats
Publication information
Publisher
Basel, Switzerland: S. Karger AG
Subjects
More information
Scope and Contents
Contents
NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations have been described in people with 46,XY disorders of sex development (DSD). The clinical, endocrine, and genetic features of four 46,XY subjects with NR5A1 genetic variant...
Alternative Titles
Full title
NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmed_primary_32369823
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_32369823
Other Identifiers
ISSN
1661-5425
E-ISSN
1661-5433
DOI
10.1159/000507411
