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

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

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...

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Bibliographic Details
Main Authors: Heye Chen, Wei Yao, Qing He, Xuefang Yu, Bo Bian
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genetics
Subjects:
Pheochromocytoma
Paraganglioma
Succinate dehydrogenase
Mutation
Metastasis
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-020-01049-3

Internet

http://link.springer.com/article/10.1186/s12881-020-01049-3

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