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Article

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

Clinical endocrinology - 1 Apr 2008

Timmers Henri J L M, Pacak Karel, Bertherat Jérôme, Lenders Jacques W M, Duet Michèle, Eisenhofer Graeme, Stratakis Constantine A, Niccoli-Sire Patricia, Tran Ba Huy Patrice, Burnichon Nelly, Gimenez-Roqueplo Anne-Paule

Abstract excerpt

OBJECTIVE: Hereditary paraganglioma (PGL) syndromes result from germline mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). SDHB-related PGLs are known in particular for their high malignant potential. Recently, however, malignant PGLs were also reported among a small minority of Dutch carriers of the SDHD founder mutation D92Y. The aim of...

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Identifiers

PMID: 17973943
DOI: 10.1111/j.1365-2265.2007.03086.x

Genes

SDHD
SDHB
SDHC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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