Mouse models of Fanconi anemia

K Parmar, A D'Andrea, LJ Niedernhofer - Mutation Research/Fundamental …, 2009 - Elsevier
Fanconi anemia is a rare inherited disease characterized by congenital anomalies, growth
retardation, aplastic anemia and an increased risk of acute myeloid leukemia and squamous
cell carcinomas. The disease is caused by mutation in genes encoding proteins required for
the Fanconi anemia pathway, a response mechanism to replicative stress, including that
caused by genotoxins that cause DNA interstrand crosslinks. Defects in the Fanconi anemia
pathway lead to genomic instability and apoptosis of proliferating cells. To date, 13 …