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- W2161081179 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." @default.
- W2161081179 created "2016-06-24" @default.
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- W2161081179 date "2009-04-01" @default.
- W2161081179 modified "2023-10-14" @default.
- W2161081179 title "Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment" @default.
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- W2161081179 doi "https://doi.org/10.1016/j.hoc.2009.01.007" @default.
- W2161081179 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2754297" @default.
- W2161081179 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19327581" @default.
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