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SDHB-Associated Paraganglioma Syndrome in Africa—A Need for Greater Genetic Testing
A germline mutation is identified in almost 40% of pheochromocytoma/paraganglioma (PPGL) syndromes. Genetic testing and counseling are essential for the management of index cases as well as presymptomatic identification and preemptive management of affected family members. Mutations in the genes enc...
Autores principales: | Siddiqui, Nida, Seedat, Faheem, Bulbulia, Saajidah, Mtshali, Nompumelelo Z, Botha, Adam, Krause, Amanda, Daya, Reyna, Bayat, Zaheer |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8348940/ https://www.ncbi.nlm.nih.gov/pubmed/34377882 http://dx.doi.org/10.1210/jendso/bvab111 |
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