Article

NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor to Reveal a Complex DSD Phenotype

2024-08-14

Abstract excerpt

Steroidogenic factor 1 (SF-1) is a nuclear receptor that regulates steroidogenesis and reproductive development. NR5A1/SF-1 variants are associated with a broad spectrum of phenotypes across individuals with disorders of sex development (DSD). Oligogenic inheritance has been suggested as an explanation. However, testing the impact of specific gene variants involved in a network remains difficult. To confirm the hy...

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Literature Corpus work: 7ec152ef-a0cd-5b3e-9236-0d312afa294c
DOI: 10.20944/preprints202408.0883.v1

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