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Article

Ovarian failure related to eukaryotic initiation factor 2B mutations.

American journal of human genetics - 1 Jun 2003

Fogli Anne, Rodriguez Diana, Eymard-Pierre Eléonore, Bouhour Françoise, Labauge Pierre, Meaney Brandon F, Zeesman Susan, Kaneski Christine R, Schiffmann Raphael, Boespflug-Tanguy Odile

Abstract excerpt

Ovarian failure (OF) at age <40 years occurs in approximately 1% of all women. Other than karyotype abnormalities, very few genes are known to be associated with this ovarian dysfunction. We studied eight patients who presented with premature OF and white-matter abnormalities on magnetic resonance imaging. Neurological signs may be absent or present after OF. In seven patients, we report for the first time...

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Identifiers

PMID: 12707859
DOI: 10.1086/375404
PMCID: PMC1180314

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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