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Article

Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity.

Journal of hypertension - 1 Jan 2009

Persu Alexandre, Amyere Mustapha, Gutierrez-Roelens Ilse, Rustin Pierre, Sempoux Christine, Lecouvet Frédéric E, Van Beers Bernard E, Horsmans Yves, De Plaen Jean-François, MarcHamoir, Vikkula Miikka

Abstract excerpt

OBJECTIVE: Mutations in genes encoding succinate dehydrogenase and its anchoring subunits (SDH genes) are at the origin of hereditary head and neck paraganglioma (PGL) and a subset of apparently sporadic pheochromocytoma. METHODS: We describe a family including three patients harbouring bilateral head and neck PGL diagnosed before 25 years of age. Multiple hypervascular hepatic lesions were subsequently...

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Share to SDHC gene
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Paraganglioma

Share to Polymorphism, Single Nucleotide

Share to Proto-Oncogene Proteins c-ret

Share to Succinate Dehydrogenase

Share to Von Hippel-Lindau Tumor Suppressor Protein

Source

Identifiers

PMID: 19145771
DOI: 10.1097/hjh.0b013e328317a777

Genes

RET
VHL
SDHB
SDHC
SDHD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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