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Article

Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study.

Journal of autism and developmental disorders - 1 Mar 2013

Tassone Flora, Choudhary Nimrah S, Tassone Federica, Durbin-Johnson Blythe, Hansen Robin, Hertz-Picciotto Irva, Pessah Isaac

Abstract excerpt

Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (>200 repeats) in the 5'UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have...

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Identifiers

PMID: 22767137
DOI: 10.1007/s10803-012-1580-2
PMCID: PMC4596818

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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