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Article

Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation.

American journal of medical genetics. Part A - 1 Mar 2011

Basuta Kirin, Narcisa Vivien, Chavez Alyssa, Kumar Madhur, Gane Louise, Hagerman Randi, Tassone Flora

Abstract excerpt

Individuals with alleles containing 55-200 CGG repeats in the fragile X mental retardation (FMR1) gene are premutation carriers. The premutation allele has been shown to lead to a number of types of clinical involvement, including shyness, anxiety, social deficits, attention deficit hyperactivity disorder (ADHD), and executive function deficits. Some of these problems could be due to mild deficits of the fragile...

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

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Source

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Identifiers

PMID: 21344625
DOI: 10.1002/ajmg.a.33446
PMCID: PMC3568664

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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