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Article

DIAGNOSIS of ENDOCRINE DISEASE: SDHx mutations: beyond pheochromocytomas and paragangliomas.

European journal of endocrinology - 1 Jan 2018

Mannelli Massimo, Canu Letizia, Ercolino Tonino, Rapizzi Elena, Martinelli Serena, Parenti Gabriele, De Filpo Giuseppina, Nesi Gabriella

Abstract excerpt

Mutations in one of the five genes encoding the succinate dehydrogenase (SDHx) or mitochondrial complex II cause the corresponding family syndromes characterized by the occurrence of pheochromocytomas (PHEO) and paragangliomas (PGL). Recently, other solid growths, such as gastrointestinal stromal tumors (GISTs), renal cell carcinomas (RCCs) and pituitary adenomas (PAs) have been associated with these syndromes....

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Source

Identifiers

PMID: 28924001
DOI: 10.1530/EJE-17-0523

Genes

SDHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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