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Medline ® Abstract for Reference 68

of 'Clinical manifestations and diagnosis of Fanconi anemia'

68
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Pathophysiology and management of inherited bone marrow failure syndromes.
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Shimamura A, Alter BP
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Blood Rev. 2010;24(3):101. Epub 2010 Apr 24.
 
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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Pediatric Hematology/Oncology, Fred Hutchinson Cancer Research Center and Seattle Children's Hospital, Seattle, WA, USA. shima2@u.washington.edu
PMID