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Article

Cognitive and behavioral profile of fragile X boys: correlations to molecular data.

American journal of medical genetics - 13 Nov 2000

Backes M, Genç B, Schreck J, Doerfler W, Lehmkuhl G, von Gontard A

Abstract excerpt

Fragile X syndrome (FXS) is the most common form of inherited mental retardation after Down syndrome. The expansion of a CGG repeat, located in the 5'-untranslated region (5'-UTR) of the FMR1 (fragile X mental retardation) gene, leads to the hypermethylation of the repeat and the upstream CpG island. Methylation is associated with transcriptional silencing of the FMR1 gene. The lack of FMR1 protein is believed to...

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Source

Identifiers

PMID: 11078566

Genes

FMR1

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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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