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Article

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

European journal of human genetics : EJHG - 1 Jan 2011

Hawkins Malcolm, Boyle Jennifer, Wright Kathleen E, Elles Rob, Ramsden Simon C, O'Grady Anna, Sweeney Michael, Barton David E, Burgess Trent, Moore Melanie, Burns Chris, Stacey Glyn, Gray Elaine, Metcalfe Paul, Hawkins J Ross

Abstract excerpt

Fragile X syndrome is the most common inherited form of mental retardation. It is caused by expansion of a trinucleotide (CGG)n repeat sequence in the 5' untranslated region of the FMR1 gene, resulting in promoter hypermethylation and suppression of FMR1 transcription. Additionally, pre-mutation alleles in carrier males and females may result in Fragile X tremor ataxia syndrome and primary ovarian insufficiency,...

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Identifiers

PMID: 20736975
DOI: 10.1038/ejhg.2010.135
PMCID: PMC3039502

Genes

FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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