[Chinese expert consensus on the diagnosis and treatment of Fanconi anemia (version 2022)].

Abstract excerpt

Fanconi anemia (FA) is an autosomal recessive or X-linked hereditary bone marrow failure disease, in which mutations or deletions of FA-related genes lead to abnormalities in DNA repairment after damage and DNA cross-linking repair. The most common mutation genes include FANCA, FANCC, FANCG, FANCE and FANCF. FA is a disorder with high phenotypic and genotypic heterogeneity and mainly manifests as congenital...

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