Article
Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth.
Acta neurochirurgica - 1 Dec 2023
Cabrera-Montes Jorge, Aguirre Daniel T, Viñas-López Jesús, Lorente-Herraiz Laura, Recio-Poveda Lucía, Albiñana Virginia, Pérez-Pérez Julián, Botella Luisa M, Cuesta Angel M
Abstract excerpt
PURPOSE: Von Hippel-Lindau (VHL) is a rare inherited disease mainly characterized by the growth of tumours, predominantly hemangioblastomas (Hbs) in the CNS and retina, and renal carcinomas. The natural history of VHL disease is variable, differing in the age of onset and its penetrance, even among relatives. Unfortunately, sometimes VHL shows more severe than average: the onset starts in adolescence, and...
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