Fanconi anaemia complementation group O

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Fanconi anaemia complementation group O2016-11-25T20:28:19+00:00

Fanconi anaemia complementation group O

HAEMATOLOGY

Definition A clinically and genetically heterogeneous disorder (OMIM:613390) characterised by genomic instability, resulting in developmental defects in major organ systems, early-onset bone marrow failure, and a markedly increased risk of cancer.

Molecular pathology Defects of RAD51C, which encodes a protein involved in the homologous recombination and DNA repair, cause Fanconi anemia complementation group O.  

References http://www.uniprot.org/uniprot/O43502

http://www.omim.org/entry/613390

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