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Article

DEB test for Fanconi anemia detection in patients with atypical phenotypes.

American journal of medical genetics. Part A - 1 Jan 2004

Esmer Carmen, Sánchez Silvia, Ramos Sandra, Molina Bertha, Frias Sara, Carnevale Alessandra

Abstract excerpt

Pancytopenia, hyperpigmentation, small stature, congenital abnormalities, and predisposition to neoplasia characterize Fanconi anemia (FA). The clinical phenotype is extremely variable, therefore the diagnosis is frequently delayed until the pancytopenia appears, making diagnosis difficult on the basis of clinical manifestations alone. Hypersensitivity of FA cells to the clastogenic effect of diepoxybutane (DEB)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14679584
DOI: 10.1002/ajmg.a.20327

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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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