Article
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.
Frontiers in endocrinology - 1 Jan 2020
Ma Xiaosen, Li Ming, Tong Anli, Wang Fen, Cui Yunying, Zhang Xuebin, Zhang Yushi, Chen Shi, Li Yuxiu
Abstract excerpt
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 (SDHA, SDHB, SDHC, SDHD, SDHAF2, FH, VHL, RET, NF1, MAX, TMEM127, and KIF1B) by next-generation sequencing and...
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