Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.

doi:10.1186/s11689-019-9288-7

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Article

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.

Journal of neurodevelopmental disorders - 26 Dec 2019

Baker Emma K, Arpone Marta, Vera Solange Aliaga, Bretherton Lesley, Ure Alexandra, Kraan Claudine M, Bui Minh, Ling Ling, Francis David, Hunter Matthew F, Elliott Justine, Rogers Carolyn, Field Michael J, Cohen Jonathan, Maria Lorena Santa, Faundes Victor, Curotto Bianca, Morales Paulina, Trigo Cesar, Salas Isabel, Alliende Angelica M, Amor David J, Godler David E

Abstract excerpt

BACKGROUND: Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cells with either methylated FM or smaller unmethylated pre-mutation (PM: CGG 55-199) alleles in the same individual...

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Identifiers

PMID: 31878865
DOI: 10.1186/s11689-019-9288-7
PMCID: PMC6933737

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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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