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Article

Compound heterozygous mutations of the SBDS gene in a patient with Shwachman-Diamond syndrome, type 1 diabetes mellitus and osteoporosis.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Jan 2006

Rosendahl Jonas, Teich Niels, Mossner Joachim, Edelmann Jeanett, Koch Christian A

Abstract excerpt

Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, skeletal abnormalities and hematological dysfunction. The genetic analysis of the SBDS gene and the long-term follow-up of a 37-year-old man with SDS, osteoporosis and type 1 diabetes are reported. Analysis of the SBDS gene revealed a compound heterozygous genotype with 7 mutations. This genotype is the result of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17106217
DOI: 10.1159/000096978

Genes

SBDS
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Compound heterozygous mutations of the SBDS gene in a patient with Shwachman-Diamond syndrome, type 1 diabetes mellitus and osteoporosis.PMID 17106217Read ↗

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Mutations in SBDS are associated with Shwachman-Diamond syndrome.Semantic proximity Read ↗

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literatureSemantic proximity Read ↗

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Prediction of Four Novel SNPs V17M, R11H, A66T, and F57S in the <i>SBDS</i> Gene Possibly Associated with Formation of Shwachman-Diamond Syndrome, using an Insilico ApproachSemantic proximity Read ↗

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