Case Report: A novel EPAS1 mutation in a case of paraganglioma complicated with polycythemia and atrial septal defect

BACKGROUND: Paraganglioma is a rare neuroendocrine tumor and is highly associated with hereditary susceptibility genes, often occurring as part of a genetic syndrome. The genetic heterogeneity of paraganglioma poses challenges in diagnosis, counseling, and clinical management. CASE SUMMARY: We prese...

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Detalles Bibliográficos
Autores principales: Yang, Haiyan, Chen, Yue, Liu, Kai, Zhao, Liming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419204/
https://www.ncbi.nlm.nih.gov/pubmed/37576964
http://dx.doi.org/10.3389/fendo.2023.1180091

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419204/
https://www.ncbi.nlm.nih.gov/pubmed/37576964
http://dx.doi.org/10.3389/fendo.2023.1180091

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