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Comprehensive characterization and building of National Registry of von Hippel–Lindau disease in Brazil

BACKGROUND: Von Hippel‐Lindau (VHL) disease is an autosomal dominant disorder caused by pathogenic variants in VHL gene. The common manifestations include hemangioblastomas (HB) of the central nervous system (CNS) and retina (RH); pheochromocytoma (PHEO); clear cell renal cell carcinoma (ccRCC); pan...

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Detalles Bibliográficos
Autores principales: Dallagnol, Tabatha Nakakogue, Da Cás, Eduardo, Junior, Odery Ramos, Casali‐da‐Rocha, José Cláudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094063/
https://www.ncbi.nlm.nih.gov/pubmed/36625343
http://dx.doi.org/10.1002/mgg3.2136