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Surveillance of succinate dehydrogenase gene mutation carriers: Insights from a nationwide cohort.

Clinical endocrinology - 1 Jun 2020

Martins Raquel G, Cunha Nuno, Simões Helder, Matos Maria João, Silva João, Torres Isabel, Rodrigues Fernando, Leite Valeriano, Teixeira Manuel R, Bugalho Maria João

Abstract excerpt

OBJECTIVE: Mutations in the genes coding for succinate dehydrogenase (SDHx) are the most frequent germline alterations in pheochromocytomas and paragangliomas. Evidence for the advantages associated with presymptomatic screening for SDHx mutation carriers is scarce. This study describes a nationwide cohort of these mutation carriers and aims to compare patients with clinical manifestations of the disease and...

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Identifiers

PMID: 32181896
DOI: 10.1111/cen.14184

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