Associated Papers
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Priestley JRC et al.
Molecular Genetics and Metabolism Reports, 2022
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.
Calsina B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era.
Pillai S et al.
Critical Reviews in Oncology/hematology, 2016
Identification of novel hereditary cancer genes by whole exome sequencing.
Sokolenko AP et al.
Cancer Letters, 2015
Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.
Cascón A et al.
Journal of the National Cancer Institute, 2015
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