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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

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