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Article

A family with two female siblings with compound heterozygous FMR1 premutation alleles.

Clinical genetics - 1 May 2014

Basuta K, Lozano R, Schneider A, Yrigollen C M, Hessl D, Hagerman R J, Tassone F

Abstract excerpt

Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. Carrier females typically have a premutation allele and a normal allele (<55 CGG repeats). Although rare, seven cases of females that carry two expanded alleles...

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Share to Fragile X Mental Retardation Protein
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Source

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Identifiers

PMID: 23786467
DOI: 10.1111/cge.12218
PMCID: PMC3996450

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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