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Article

Shwachman-Diamond syndrome.

Musculoskeletal surgery - 1 Aug 2012

Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P

Abstract excerpt

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive, susceptibility to infections and short stature. A persistent or intermittent neutropenia occurs in 88-100% of patients. Bone marrow biopsy usually reveals a hypoplastic specimen with varying degrees of...

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Source

Identifiers

PMID: 22201042
DOI: 10.1007/s12306-011-0174-z

Genes

SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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