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Fanconi Anemia 

Fanconi Anemia
Chapter:
Fanconi Anemia
Author(s):

Henri Van De Vrugt

and Markus Grompe

DOI:
10.1093/med/9780199934522.003.0172
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date: 27 February 2021

Fanconi anemia (FA) is a rare genetic disorder characterized by developmental aberrations, bone marrow failure and severe cancer predisposition. The diagnostic hallmark of FA is the exquisite cellular sensitivity to interstrand crosslinking agents. Currently, 16 distinct FA genes have been identified, all encoding proteins that operate in a network to maintain genomic stability during DNA replication. Dysfunction of this network results in progressive loss of hematopoietic stem cells and makes the genome susceptible to DNA damage especially lesions caused by reactive endogenous aldehydes. This chapter elaborates on the clinical aspects and current molecular details of Fanconi anemia.

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