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Article

Heterogeneity in ataxia-telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity.

American journal of medical genetics - 1 Mar 1992

Chessa L, Petrinelli P, Antonelli A, Fiorilli M, Elli R, Marcucci L, Federico A, Gandini E

Abstract excerpt

We identified a subgroup of ataxia-telangiectasia (AT) patients (2 sibs and 1 unrelated case) characterized by typical clinical manifestations of the disease and cellular radiosensitivity intermediate between classical AT and normal subjects. Our data and a literature review of the intermediate r...

Topics

Adolescent
Ataxia Telangiectasia
Cell Line, Transformed
Cell Survival
Cells, Cultured
Child
Chromosome Aberrations
Chromosome Disorders
DNA
Female
Gamma Rays
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Phenotype

Radiation Tolerance

Source

Identifiers

PMID: 1632451
DOI: 10.1002/ajmg.1320420524

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1632451-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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