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...

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Detalles Bibliográficos
Autores principales: Siddiqui, Nida, Seedat, Faheem, Bulbulia, Saajidah, Mtshali, Nompumelelo Z, Botha, Adam, Krause, Amanda, Daya, Reyna, Bayat, Zaheer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Case Report
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

Internet

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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