Article

The genotype-phenotype correlation of NR5A1 variants in 46,XY individuals: a study protocol

2024-08-28

Abstract excerpt

<h4>Introduction</h4> Disorders of sex development (DSDs) were defined as congenital conditions in which the development of chromosomal, gonadal and anatomic sex is atypical. Nuclear receptor subfamily 5 group A member 1 ( NR5A1 ), previously known as steroidogenic factor 1 ( SF1 ) plays a crucial role in transcriptional regulation of genes involved in steroidogenesis, adrenal and gonadal development, and reproduc...

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Literature Corpus work: 3d0fb6cf-a3ad-503b-a709-4a560f7adc5b
DOI: 10.1101/2024.08.27.24312633

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