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Article

Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.

Annals of human genetics - 1 Mar 2012

Peprah Emmanuel

Abstract excerpt

Fragile X syndrome (FXS) is characterized by moderate to severe intellectual disability, which is accompanied by macroorchidism and distinct facial morphology. FXS is caused by the expansion of the CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. The syndrome has been studied in ethnically diverse populations around the world and has been extensively...

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Source

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Identifiers

PMID: 22188182
DOI: 10.1111/j.1469-1809.2011.00694.x
PMCID: PMC3288311

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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