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Article

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2014

Murray Anna, Schoemaker Minouk J, Bennett Claire E, Ennis Sarah, Macpherson James N, Jones Michael, Morris Danielle H, Orr Nick, Ashworth Alan, Jacobs Patricia A, Swerdlow Anthony J

Abstract excerpt

PURPOSE: Primary ovarian insufficiency before the age of 40 years affects 1% of the female population and is characterized by permanent cessation of menstruation. Genetic causes include FMR1 expansion mutations. Previous studies have estimated mutation prevalence in clinical referrals for primary ovarian insufficiency, but these are likely to be biased as compared with cases in the general population. The...

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Identifiers

PMID: 23703681
DOI: 10.1038/gim.2013.64
PMCID: PMC3914024

Genes

FMR1

Provenance

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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