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Article

[Diagnostic testing in fragile X syndrome].

Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi - 1 Jan 2000

Sireteanu Adriana, Rusu Cristina

Abstract excerpt

Fragile X syndrome is the most common inherited cause of mental retardation. It is caused by a progressive expansion of polymeric (CGG)n trinucleotide repeats located on the FMR1 gene at Xq27.3. The spectrum of clinical involvement is broad, clinical diagnosis being difficult especially in young...

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Source

Identifiers

PMID: 17438909

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17438909-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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