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Article

A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome.

American journal of diseases of children (1960) - 1 Nov 1993

Hull C, Hagerman R J

Abstract excerpt

The physical features of fragile X, including a long face, prominent ears, and hyperextensible joints, are present in affected males and females. Cytogenetically negative heterozygotes have been considered to be unaffected by the fragile X mental retardation-1 (FMR-1) gene. This study investigated the penetrance of the FMR-1 gene in cytogenetically negative but DNA-positive heterozygotes with a premutation...

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Source

Identifiers

PMID: 8237919
DOI: 10.1001/archpedi.1993.02160350110017

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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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