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Article

Shwachman-diamond syndrome: A case report.

Medicine - 19 Feb 2021

Tan Huihan, Su Dequan, Zhuo Zhiqiang

Abstract excerpt

RATIONALE: The aim of this study was to analyze the genetic abnormalities and clinical manifestations of Shwachman-Diamond syndrome (SDS). PATIENT CONCERNS: A Chinese infant with elevated transaminase and a novel mutation at of sbdsc.258 +2T>C and c.184a>Tc.292G>A. DIAGNOSES: The female patient was 5 months' old at onset, with elevated transaminase as the first manifestation accompanied by restricted growth and...

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Identifiers

PMID: 33607811
DOI: 10.1097/MD.0000000000024712
PMCID: PMC7899833

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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