Ontology highlight
ABSTRACT:
SUBMITTER: Ma X
PROVIDER: S-EPMC7761866 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Ma Xiaosen X Li Ming M Tong Anli A Wang Fen F Cui Yunying Y Zhang Xuebin X Zhang Yushi Y Chen Shi S Li Yuxiu Y
Frontiers in endocrinology 20201211
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 (<i>SDHA</i>, <i>SDHB</i>, <i>SDHC</i>, <i>SDHD</i>, <i>SDHAF2</i>, <i>FH</i>, <i>VHL</i>, <i>RET</i>, <i>NF1</i>, <i>MAX</i>, <i>TMEM127</i>, and <i>KIF1B</i>) by next-generation sequencing and Sange ...[more]