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Article

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.

European journal of human genetics : EJHG - 1 Apr 2015

Biancalana Valérie, Glaeser Dieter, McQuaid Shirley, Steinbach Peter

Abstract excerpt

Different mutations occurring in the unstable CGG repeat in 5' untranslated region of FMR1 gene are responsible for three fragile X-associated disorders. An expansion of over ∼200 CGG repeats when associated with abnormal methylation and inactivation of the promoter is the mutation termed 'full mutation' and is responsible for fragile X syndrome (FXS), a neurodevelopmental disorder described as the most common...

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Source

Open in PubMed Open full text

Identifiers

PMID: 25227148
DOI: 10.1038/ejhg.2014.185
PMCID: PMC4666582

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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