Fanconi anemia and its diagnosis

AD Auerbach - … Research/Fundamental and Molecular Mechanisms of …, 2009 - Elsevier
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder
characterized by diverse congenital malformations, progressive pancytopenia, and
predisposition to both hematologic malignancies and solid tumors. Congenital anomalies
vary from patient to patient and may affect skeletal morphogenesis as well as any of the
major organ systems. Although this highly variable phenotype makes accurate diagnosis on
the basis of clinical manifestations difficult in some patients, laboratory study of …