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Medline ® Abstract for Reference 49

of 'Clinical manifestations and diagnosis of Fanconi anemia'

Why does the bone marrow fail in Fanconi anemia?
Garaycoechea JI, Patel KJ
Blood. 2014;123(1):26. Epub 2013 Nov 7.
The inherited bone marrow failure (BMF) syndromes are a rare and diverse group of genetic disorders that ultimately result in the loss of blood production. The molecular defects underlying many of these conditions have been elucidated, and great progress has been made toward understanding the normal function of these gene products. This review will focus on perhaps the most well-known and genetically heterogeneous BMF syndrome: Fanconi anemia. More specifically, this account will review the current state of our knowledge on why the bone marrow fails in this illness and what this might tell us about the maintenance of bone marrow function and hematopoiesis.
Medical Research Council Laboratory of Molecular Biology, Cambridge Biomedical Campus, Cambridge, United Kingdom.