Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

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 deter...

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Veröffentlicht in:Genet Med
Hauptverfasser: Calsina, Bruna, Currás-Freixes, Maria, Buffet, Alexandre, Pons, Tirso, Contreras, Laura, Letón, Rocío, Méndez, Iñaki Comino, 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7456538/
https://ncbi.nlm.nih.gov/pubmed/30008476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0068-7
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