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Article

Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia.

Pediatric blood & cancer - 1 Jul 2008

Black L Vandy, Soltau Thomas, Kelly David R, Berkow Roger L

Abstract excerpt

Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We rep...

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PMID: 18322927
DOI: 10.1002/pbc.21550

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18322927-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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