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Review
. 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

Lauri Burroughs  1 , Ann Woolfrey, Akiko Shimamura
Affiliations
Review

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

Lauri Burroughs et al. Hematol Oncol Clin North Am. 2009 Apr.

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.

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References

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