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Article

One genotype, many phenotypes: SDHB p.R90X mutation-associated paragangliomas.

Endocrine - 1 Dec 2020

Alzahrani Ali S, Alswailem Meshael, Moria Yosra, Aldeheshi Ayman, Al-Hindi Hindi

Abstract excerpt

CONTEXT: SDHB p.R90X germline mutation is the most common genetic alteration in our patients with familial or apparently sporadic pheochromocytoma/paraganglioma (PPGL). OBJECTIVE: To analyze the clinical and pathological characteristics, response to therapy, and outcome of patients with SDHB p.R90X-associated PPGL and describe the clinical phenotypic variability in the patients carrying this mutation. METHODS: We...

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Identifiers

PMID: 32804377
DOI: 10.1007/s12020-020-02461-8

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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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