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Hematol Oncol Clin North Am. 2009 Apr;23(2):233-48. doi: 10.1016/j.hoc.2009.01.007.

Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.

Author information

1
Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, D1-100, PO Box 19024, Seattle, WA 98109-1024, USA. lburroug@fhcrc.org

Abstract

Shwachman-Diamond syndrome is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. Other clinical features include skeletal, immunologic, hepatic, and cardiac disorders. This article focuses on the clinical presentation, diagnostic work-up, clinical management, and treatment of patients with Shwachman-Diamond syndrome.

PMID:
19327581
PMCID:
PMC2754297
DOI:
10.1016/j.hoc.2009.01.007
[Indexed for MEDLINE]
Free PMC Article

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