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Article

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.

Experimental hematology - 1 Nov 2006

Erdos Melinda, Alapi Krisztina, Balogh István, Oroszlán György, Rákóczi Eva, Sümegi János, Maródi László

Abstract excerpt

OBJECTIVE: A 5-month-old male infant presenting with recurrent respiratory tract infections, chronic diarrhea, and failure to thrive was found to be pancytopenic. Bone marrow and x-ray examinations were consistent with Shwachman-Diamond syndrome (SDS). Genomic DNA sequencing, restriction fragment analysis, and studies of the mutant proteins were performed to gain further knowledge on the molecular pathology of...

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Source

Identifiers

PMID: 17046571
DOI: 10.1016/j.exphem.2006.06.009

Genes

SBDS
SDS

Variants

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.

Related research

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Research trail→

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Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.PMID 17046571Read ↗

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

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[Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene].Semantic proximity Read ↗

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.Semantic proximity Read ↗

SBDS Gene Mutation Increases ROS Production and Causes DNA Damage as Well as Oxidation of Mitochondrial Membranes in the Murine Myeloid Cell Line 32Dcl3.Semantic proximity Read ↗

Hematologically important mutations: Shwachman-Diamond syndrome.Semantic 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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