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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Consensus Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8205850/
https://www.ncbi.nlm.nih.gov/pubmed/34021277
http://dx.doi.org/10.1038/s41574-021-00492-3

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