International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers

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 p...

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Опубликовано в: :Nat Rev Endocrinol
Главные авторы: Amar, Laurence, Pacak, Karel, Steichen, Olivier, Akker, Scott A., Aylwin, Simon J. B., Baudin, Eric, Buffet, Alexandre, Burnichon, Nelly, Clifton-Bligh, Roderick J., Dahia, Patricia L. M., Fassnacht, Martin, Grossman, Ashley B., Herman, Philippe, Hicks, Rodney J., Januszewicz, Andrzej, Jimenez, Camilo, Kunst, Henricus P. M., Lewis, Dylan, Mannelli, Massimo, Naruse, Mitsuhide, Robledo, Mercedes, Taïeb, David, Taylor, David R., Timmers, Henri J. L. M., Treglia, Giorgio, Tufton, Nicola, Young, William F., Lenders, Jacques W. M., Gimenez-Roqueplo, Anne-Paule, Lussey-Lepoutre, Charlotte
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group UK 2021
Предметы:
Consensus Statement
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8205850/
https://ncbi.nlm.nih.gov/pubmed/34021277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41574-021-00492-3
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