International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
Abstract
Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the SDH enzyme. When a pathogenic SDHx mutation is identified in an affected patient, genetic counselling is proposed for first-degree relatives. Optimal initial evaluation and follow-up of people who are asymptomatic but might...
Paper Details
Title
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
Published Date
May 21, 2021
Journal
Volume
17
Issue
7
Pages
435 - 444
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History