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Article

Shwachman-Diamond syndrome: diarrhea, no longer required?

Journal of pediatric hematology/oncology - 1 Aug 2013

Andolina Jeffrey R, Morrison Colleen B, Thompson Alexis A, Chaudhury Sonali, Mack A Kyle, Proytcheva Maria, Corey Seth J

Abstract excerpt

Exocrine pancreatic insufficiency and diarrhea have been hallmarks in the diagnosis of Shwachman-Diamond syndrome (SDS). We report 2 cases of genetically confirmed SDS in patients who presented with an unusual phenotype. Patient #1 presented with pancytopenia without other system involvement, while patient #2 presented with severe neutropenia, anemia, and a bifid thumb. Neither patient had diarrhea or...

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Source

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Identifiers

PMID: 22935661
DOI: 10.1097/MPH.0b013e3182667c13
PMCID: PMC3514592

Genes

SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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