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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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Detalhes bibliográficos
Publicado no:Nat Rev Endocrinol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
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Acesso em linha: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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