Article
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.
European journal of medical genetics - 1 Aug 2022
Louise M Binderup Marie, Smerdel Maja, Borgwadt Line, Beck Nielsen Signe Sparre, Madsen Mia Gebauer, Møller Hans Ulrik, Kiilgaard Jens Folke, Friis-Hansen Lennart, Harbud Vibeke, Cortnum Søren, Owen Hanne, Gimsing Steen, Friis Juhl Henning Anker, Munthe Sune, Geilswijk Marianne, Rasmussen Åse Krogh, Møldrup Ulla, Graumann Ole, Donskov Frede, Grønbæk Henning, Stausbøl-Grøn Brian, Schaffalitzky de Muckadell Ove, Knigge Ulrich, Dam Gitte, Wadt Karin Aw, Bøgeskov Lars, Bagi Per, Lund Lars, Stochholm Kirstine, Ousager Lilian Bomme, Sunde Lone
Abstract excerpt
von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell carcinomas (RCC), pheochromocytomas, neuroendocrine pancreatic tumours (PNET) and endolymphatic sac tumours. Evidence based approaches are needed to ensure an optimal clinical care, while minimizing the burden for the patients and their families. This...
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