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Article

The Fragile X premutation: new insights and clinical consequences.

European journal of medical genetics - 1 Jan 2000

Van Esch Hilde

Abstract excerpt

The Fragile X syndrome (FXS, MIM 309550) is still the most prevalent cause of heritable mental retardation, with a frequency of 1/4000 males and 1/6000 females. The syndrome and its particular pattern of heredity are caused by a dynamic mutation, involving an unstable expansion of a trinucleotide (CGG) repeat at the 5' UTR of the FMR1 gene, located at Xq27.3. Expansion of this repeat region greater than 200...

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

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Source

Identifiers

PMID: 16473304
DOI: 10.1016/j.ejmg.2005.11.001

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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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.Semantic proximity Read ↗

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