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[Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].

Medicina clinica - 1 Apr 2016

González-Pérez Jesús, Izquierdo-Álvarez Silvia, Fuertes-Rodrigo Cristina, Monge-Galindo Lorena, Peña-Segura José Luis, López-Pisón Francisco Javier

Abstract excerpt

INTRODUCTION: The dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (CGG) in the FMR1 gene mutation is responsible for three OMIM syndromes with a distinct clinical phenotype: Fragile X syndrome (FXS) and two pathologies in adult carriers of the premutation (55-200 CGG repeats): Primary ovarian insufficiency (FXPOI) and tremor-ataxia syndrome (FXTAS) associated with FXS. CLINICAL...

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Source

Identifiers

PMID: 26776484
DOI: 10.1016/j.medcli.2015.11.022

Genes

FMR1

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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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[Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].PMID 26776484Read ↗

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