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Medline ® Abstract for Reference 42

of 'Clinical manifestations and diagnosis of Fanconi anemia'

Fanconi anaemia: genetics, molecular biology, and cancer–implications for clinical management in children and adults.
Schneider M, Chandler K, Tischkowitz M, Meyer S
Clin Genet. 2015 Jul;88(1):13-24. Epub 2014 Nov 10.
Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross-linker hypersensitivity and extreme cancer predisposition. With better understanding of the genetic and molecular basis of the disease, and improved clinical management, FA has been transformed from a life-limiting paediatric disease to an uncommon chronic condition that needs lifelong multidisciplinary management, and a paradigm condition for the understanding of the gene-environment interaction in the aetiology of congenital anomalies, haematopoiesis and cancer development. Here we review genetic, molecular and clinical aspects of FA, and discuss current controversies and future prospects.
Stem Cell and Leukaemia Proteomics Laboratory, University of Manchester, Manchester, UK.