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Article

Think about it: FMR1 gene mosaicism.

Journal of child neurology - 1 Sept 2014

Bonarrigo Francesca Andrea, Russo Silvia, Vizziello Paola, Menni Francesca, Cogliati Francesca, Giorgini Valentina, Monti Federico, Milani Donatella

Abstract excerpt

Fragile X syndrome (FXS) is one of the most frequent causes of mental retardation, intellectual disability, and autism. Most cases are the result of an expansion of the CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene and the subsequent functional loss of the related protein. We describe the case of a 4-year-old boy who clinically presents mild psychomotor delay without any major clinical...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24065579
DOI: 10.1177/0883073813503187

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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