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
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...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Heye Chen, Wei Yao, Qing He, Xuefang Yu and Bo Bian Tags: Case report Source Type: research