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Article

Clinical aspects of SDHx-related pheochromocytoma and paraganglioma.

Endocrine-related cancer - 1 Jun 2009

Timmers Henri J L M, Gimenez-Roqueplo Anne-Paule, Mannelli Massimo, Pacak Karel

Abstract excerpt

Paragangliomas (PGLs) derive from either sympathetic chromaffin tissue in adrenal and extra-adrenal abdominal or thoracic locations, or from parasympathetic tissue of the head and neck. Mutations of nuclear genes encoding subunits B, C, and D of the mitochondrial enzyme succinate dehydrogenase (SDHB 1p35-p36.1, SDHC 1q21, SDHD 11q23) give rise to hereditary PGL syndromes PGL4, PGL3, and PGL1 respectively. The...

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Source

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Identifiers

PMID: 19190077
DOI: 10.1677/ERC-08-0284
PMCID: PMC4711350

Genes

SDHB
SDHD
SDHC

Provenance

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