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Article

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.

BMC medical genetics - 27 May 2020

Chen Heye, Yao Wei, He Qing, Yu Xuefang, Bian Bo

Abstract excerpt

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 widely carried out in clinics in China, and only a few related studies have been reported. CASE PRESENTATION: We report a...

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Identifiers

PMID: 32460727
DOI: 10.1186/s12881-020-01049-3
PMCID: PMC7254674

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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