Associated Papers
Presentation of a missense MDH2 variant in a Greek patient with pheochromocytoma.
Papanastasiou L et al.
Hormones (athens, Greece), 2025
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11
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
Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.
Jungtrakoon Thamtarana P et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS
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
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