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Article

The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.

BMC medical genetics - 15 Apr 2009

Bayley Jean-Pierre, Grimbergen Anneliese E M, van Bunderen Patrick A, van der Wielen Michiel, Kunst Henricus P, Lenders Jacques W, Jansen Jeroen C, Dullaart Robin P F, Devilee Peter, Corssmit Eleonora P, Vriends Annette H, Losekoot Monique, Weiss Marjan M

Abstract excerpt

BACKGROUND: Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. These three genes encode subunits of succinate dehydrogenase (SDH), the mitochondrial tricarboxylic acid cycle enzyme and complex II component of th...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19368708
DOI: 10.1186/1471-2350-10-34
PMCID: PMC2670821

Genes

SDHB
SDHC
SDHD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19368708-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

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The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.PMID 19368708Read ↗

The phenotype of SDHB germline mutation carriers: a nationwide study.Semantic proximity Read ↗

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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.Semantic proximity Read ↗

Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.Semantic proximity Read ↗

Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.Semantic proximity Read ↗

The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.Semantic proximity Read ↗

Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion.Semantic proximity Read ↗

Molecular characterisation of a common SDHB deletion in paraganglioma patients.Semantic proximity Read ↗

Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patientsSemantic proximity Read ↗

De novo SDHB gene mutation in a family with extra-adrenal paraganglioma.Semantic proximity Read ↗

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.Semantic proximity Read ↗

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.Semantic proximity Read ↗

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