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Article

Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype.

Journal of medical genetics - 1 Aug 2000

Willemsen R, Olmer R, De Diego Otero Y, Oostra B A

Abstract excerpt

The absence of the fragile X mental retardation protein (FMRP) results in fragile X syndrome. All males with a full mutation in the FMR1 gene and an inactive FMR1 gene are mentally retarded while 60% of the females with a full mutation are affected. Here we describe monozygotic twin sisters who both have a full mutation in their FMR1 gene, one of whom is normal while the other is affected. Using molecular and...

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Source

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Identifiers

PMID: 10922388
DOI: 10.1136/jmg.37.8.603
PMCID: PMC1734662

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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