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Fanconi anemia, complementation group B (FANCB)

Defects in FANCB are the cause of Fanconi anemia complementation group B (FANCB) [MIM:300514].
It is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

OTHER NAME(S): FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE 95-KD

ABREVIATION(S):
FANCB
FA-B
FAAP95
FAAP90
FLJ34064

TYPE: skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure

Related patway(s): Fanconi anemia (FA) pathway

DNAtraffic protein(s) related to disease: FANCB

OMIM: 300514

Last modification date: Aug. 24, 2011