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Title: Pathophysiology and management of inherited bone marrow failure syndromes.
Authors: Shimamura A,  Alter BP
Journal: Blood Rev
Date: 2010 May
Branches: CGB
PubMed ID: 20417588
PMC ID: PMC3733544
Abstract: The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly variable and much broader than previously recognized. The medical management of the inherited marrow failure syndromes differs from that of acquired aplastic anemia or malignancies arising in the general population. Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed.