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Article

Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

American journal of medical genetics. Part A - 1 Jun 2010

Schimke R Neil, Collins Debra L, Stolle Catherine A

Abstract excerpt

Familial paraganglioma/pheochromocytoma (PGL/PCC) is genetically heterogenous with mutations in three of the four subunits of the heterotetrameric mitochondrial complex II enzyme succinate dehydrogenase (SDH) being causally responsible for the majority of cases. In addition to PGL/PCC an array of non-paraganglial tumors have been described in affected individuals. We present a 30-year follow-up on the family of a...

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Identifiers

PMID: 20503330
DOI: 10.1002/ajmg.a.33384

Genes

SDHB

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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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