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Article

NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency.

The Journal of clinical endocrinology and metabolism - 1 May 2013

Voican Adela, Bachelot Anne, Bouligand Jérôme, Francou Bruno, Dulon Jérôme, Lombès Marc, Touraine Philippe, Guiochon-Mantel Anne

Abstract excerpt

CONTEXT: Primary ovarian insufficiency (POI) is a disorder affecting approximately 1% of women under the age of 40 years. NR5A1 (SF-1) mutations have been recently reported in association with POI. OBJECTIVE: Our objective was to evaluate the frequency and functional impact of NR5A1 variants in POI. PATIENTS AND METHODS: One hundred eighty patients diagnosed with idiopathic POI were screened for NR5A1 mutations...

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Identifiers

PMID: 23543655
DOI: 10.1210/jc.2012-4111

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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