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NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes

1 Jan 2019

Abstract excerpt

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 variants (2 sisters, 2 boys) from 3 unrelated families are reported. All...

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Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Hypothalamic control of reproductive hormones
Sexual Differentiation and Disorders

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32369823
DOI: 10.1159/000507411

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different OutcomesPMID 32369823Read ↗

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