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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2021
Fag:
Consensus Statement
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker