Ontology highlight
ABSTRACT:
SUBMITTER: Auerbach AD
PROVIDER: S-EPMC4408609 | biostudies-literature | 2015 Apr
REPOSITORIES: biostudies-literature
Current protocols in human genetics 20150401
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer, particularly hematological malignancies and solid tumors of the head and neck. The main role of FA proteins is in the repair of DNA interstrand crosslinks (ICLs). FA results from pathogenic variants in at least sixteen distinct genes, causing genomic instability. Although the highly variable phenotype makes accura ...[more]