Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.

doi:10.1038/s41436-018-0068-7

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Article

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018

Calsina Bruna, Currás-Freixes Maria, Buffet Alexandre, Pons Tirso, Contreras Laura, Letón Rocío, Comino-Méndez Iñaki, Remacha Laura, Calatayud María, Obispo Berta, Martin Antoine, Cohen Regis, Richter Susan, Balmaña Judith, Korpershoek Esther, Rapizzi Elena, Deutschbein Timo, Vroonen Laurent, Favier Judith, de Krijger Ronald R, Fassnacht Martin, Beuschlein Felix, Timmers Henri J, Eisenhofer Graeme, Mannelli Massimo, Pacak Karel, Satrústegui Jorgina, Rodríguez-Antona Cristina, Amar Laurence, Cascón Alberto, Dölker Nicole, Gimenez-Roqueplo Anne-Paule, Robledo Mercedes

Abstract excerpt

PURPOSE: MDH2 (malate dehydrogenase 2) has recently been proposed as a novel potential pheochromocytoma/paraganglioma (PPGL) susceptibility gene, but its role in the disease has not been addressed. This study aimed to determine the prevalence of MDH2 pathogenic variants among PPGL patients and determine the associated phenotype. METHODS: Eight hundred thirty patients with PPGLs, negative for the main PPGL driver...

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Identifiers

PMID: 30008476
DOI: 10.1038/s41436-018-0068-7
PMCID: PMC7456538

Genes

MDH2

Variants

Provenance

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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