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Comprehensive review on Fanconi anemia: insights into DNA interstrand cross-links, repair pathways, and associated tumors

30 Jul 2025

Abstract excerpt

Fanconi anemia (FA) is a rare genetic disorder caused by defects in the repair of DNA interstrand crosslinks (ICLs)-highly toxic lesions that impede essential processes like DNA replication and transcription, leading to severe genome instability. Clinically, FA presents with a broad spectrum of symptoms, including progressive bone marrow failure, congenital abnormalities, and an elevated predisposition to various...

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PMID: 40739565
DOI: 10.1186/s13023-025-03896-w

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