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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...

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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 4 Sept 2026. Prepared record publication-17046571-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.Semantic proximity Read ↗

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

[Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].Semantic proximity Read ↗

[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 ↗

The Shwachman-Diamond SBDS protein localizes to the nucleolus.Semantic proximity Read ↗

Identification of novel mutations in patients with Shwachman-Diamond syndrome.Semantic proximity Read ↗

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.Semantic proximity Read ↗

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.Semantic proximity Read ↗

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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