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Article

The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.

Molecular genetics and metabolism - 1 Jun 2002

Ozisik Gokhan, Achermann John C, Jameson J Larry

Abstract excerpt

Steroidogenic factor 1 is a monomeric orphan nuclear receptor and one of several hundreds of transcription factors encoded in the human genome. It regulates the transcription of many genes involved in gonadal development, sexual differentiation, steroidogenesis and reproduction. Recently, mutations in the gene encoding SF1 have been identified in several patients with primary adrenal failure and 46,XY...

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Identifiers

PMID: 12083805
DOI: 10.1016/s1096-7192(02)00032-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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