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JOURNAL ARTICLE
REVIEW

Pathophysiology and management of inherited bone marrow failure syndromes

Akiko Shimamura, Blanche P Alter
Blood Reviews 2010, 24 (3): 101-22
20417588
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.

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