Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.
Jung Hee KimMan Jin KimSung Hye KongSu Jin KimHyein KangChan Soo ShinSung Sup ParkKyu Eun LeeMoon-Woo SeongPublished in: Journal of medical genetics (2020)
This study covered the largest number of Korean patients with PPGL. To our knowledge, it is the first to compare results of targeted NGS panel with those of conventional sequencing methods in Asia. We demonstrated that the variant type, as well as the mutated gene, may determine the phenotype and prognosis of PPGLs.