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Article

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.

Clinical genetics - 1 May 2011

Hashmi S K, Allen C, Klaassen R, Fernandez C V, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton J H, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand J P, Beyene J, Dror Y

Abstract excerpt

Our knowledge of the phenotypes of inherited bone marrow failure syndromes (IBMFSs) derives from case reports or case series in which only one IBMFS was studied. However, the substantial phenotypic overlap necessitates comparative analysis between the IBMFSs. Shwachman-Diamond syndrome (SDS) is a...

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Identifiers

PMID: 20569259
DOI: 10.1111/j.1399-0004.2010.01468.x

Genes

SDS
SBDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20569259-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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