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Article

Global and disease-associated genetic variation in the human Fanconi anemia gene family.

Human molecular genetics - 20 Dec 2014

Rogers Kai J, Fu Wenqing, Akey Joshua M, Monnat Raymond J

Abstract excerpt

Fanconi anemia (FA) is a human recessive genetic disease resulting from inactivating mutations in any of 16 FANC (Fanconi) genes. Individuals with FA are at high risk of developmental abnormalities, early bone marrow failure and leukemia. These are followed in the second and subsequent decades by a very high risk of carcinomas of the head and neck and anogenital region, and a small continuing risk of leukemia. In...

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Identifiers

PMID: 25104853
DOI: 10.1093/hmg/ddu400
PMCID: PMC4245043

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