Fig. 3 | Genetics in Medicine

Fig. 3

From: Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

Fig. 3

Metabolite profiling identifies pathogenic fumarate hydratase (FH) PV previously classified as variants of unknown significance (VUS). Sanger sequencing traces of leukocyte (germline) and tumor DNA from a patient 10, b patient 11 and c patient 12. d Immunohistochemical staining for FH of normal adrenal, FH wild type, and FH mutated pheochromocytoma and paraganglioma (PPGL) tissue from patients 10 and 11; 400× magnification

Back to article page