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Article

Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.

International journal of hematology - 1 Jul 2001

Yamashita T, Nakahata T

Abstract excerpt

Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies, bone marrow failure, and leukemia susceptibility. FA cells show chromosome instability and hypersensitivity to DNA cross-linking agents such as mitomycin C. Recent studies indicate that there are at least 8 genetically distinct FA groups (A, B, C, D1, D2, E, F, G). To date, 6 genes (for A, C, D2, E, F, and G) have been...

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Source

Identifiers

PMID: 11530803
DOI: 10.1007/BF02982547

Genes

BRCA1
FANCD2

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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