Front Endocrinol (Lausanne) 2020 11;11:574662. Epub 2020 Dec 11.
Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission of the People's Republic of China, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Pheochromocytoma/paraganglioma (PPGL) has a high genetic heterogeneity with 40% germline variants in known pathogenic genes. Data in Chinese on this aspect are scanty. To detect the genetic and clinical profile of Chinese PPGL patients, we examined the variants of 12 known germline pathogenic genes (, , , , , , , , , , , and ) by next-generation sequencing and Sanger sequencing in 314 Chinese PPGL subjects. Read More