Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report

• Main Authors: Heye Chen (Author), Wei Yao (Author), Qing He (Author), Xuefang Yu (Author), Bo Bian (Author)
• 格式: 图书
• 出版: BMC, 2020-05-01T00:00:00Z.
• 主题: article
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Abstract Background Pheochromocytoma/paraganglioma (PPGL) is a rare neuroendocrine tumor. Succinate dehydrogenase (SDH) deficiency has been confirmed to be associated with PPGL in various studies. SDHB mutations play an important role in PPGL. However, genetic screening of PPGL patients has not been...