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Article

Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation.

Journal of medical genetics - 1 Mar 2014

Huang Wen, Luo Shiyu, Ou Jianjun, Zhu Furong, Xia Yan, Xue Jinjie, Pan Qian, Wu Lingqian, Duan Ranhui

Abstract excerpt

BACKGROUND: The clinical phenotypes of females with fragile X full mutations vary drastically. Comparisons of discordant monozygotic twins provide opportunities to ascertain crucial factors that influence disease phenotype penetrance. OBJECTIVE: To identify crucial factors influencing the phenotypic expression of fragile X syndrome (FXS). METHODS AND RESULTS: We describe a pair of discordant monozygotic female...

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Share to DNA Methylation
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Mental Retardation Protein

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Share to FMR1 gene

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Share to Twins, Monozygotic

Source

Identifiers

PMID: 24285860
DOI: 10.1136/jmedgenet-2013-101978

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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