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Article

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

Clinical genetics - 1 Feb 2004

Mäkitie O, Ellis L, Durie P R, Morrison J A, Sochett E B, Rommens J M, Cole W G

Abstract excerpt

Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman-Diamond syndrome (SDS) whereas the associated skeletal dysplasia is variable and not consistently observed. The genetic defect in SDS has recently been identified; causative mutations have been shown in the SBDS gene. The aims of this study were to characterize the nature, frequency, and age-related changes of...

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Source

Identifiers

PMID: 14984468
DOI: 10.1111/j.0009-9163.2004.00198.x

Genes

SBDS
SDS

Provenance

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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