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Article

Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).

Fertility and sterility - 1 Jan 2012

Janse Femi, de With Larissa M, Duran Karen J, Kloosterman Wigard P, Goverde Angelique J, Lambalk Cornelius B, Laven Joop S E, Fauser Bart C J M, Giltay Jacques C

Abstract excerpt

OBJECTIVE: To evaluate the significance of NR5A1 mutations in a large, well-phenotyped cohort of women with primary ovarian insufficiency (POI). Mutations in the NR5A1 gene (SF-1) were previously described in disorders of sexual development and adrenal insufficiency. Recently, a high frequency of NR5A1 gene mutations was reported in a small group of women with POI. DESIGN: Cross-sectional cohort study. SETTING:...

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PMID: 22100173
DOI: 10.1016/j.fertnstert.2011.10.032

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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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