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Article

An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma.

Best practice & research. Clinical endocrinology & metabolism - 1 Mar 2020

Buffet Alexandre, Burnichon Nelly, Favier Judith, Gimenez-Roqueplo Anne-Paule

Abstract excerpt

Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours characterized by a strong genetic determinism. Over the past 20 years, evolution of PPGL genetics has revealed that around 40% of PPGL are genetically determined, secondary to a germline mutation in one of more than twenty susceptibility genes reported so far. More than half of the mutations occur in one of the SDHx genes (SDHA, SDHB,...

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PMID: 32295730
DOI: 10.1016/j.beem.2020.101416

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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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