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Article

Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.

European journal of medical genetics - 1 Jan 2000

Van Esch Hilde, Buekenhout Luc, Race Valerie, Matthijs Gert

Abstract excerpt

Expansion of the CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene within the premutation range is one of the known genetic factors associated with premature ovarian failure and earlier age at menopause. Studies have shown that approximately 16-26% of female carriers will develop premature ovarian failure, and current research is focussed on the...

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Source

Identifiers

PMID: 19041959
DOI: 10.1016/j.ejmg.2008.11.001

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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