Article
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics
2024-06-17
Abstract excerpt
Von Hippel-Lindau disease (VHL) is a multiple organ neoplastic syndrome with autosomal dominant transmission, complete penetrance, and variable expression caused by mutations in the VHL gene. Although VHL disease is hereditary in many cases, new mutations cause up to 20 % of the incidence. Mutations in VHL may cause the development of cysts and tumors in many organs, including brain and spinal cord hemangioblastom...
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Identifiers and source
- Literature Corpus work
- 958afc6f-d01c-5997-be3f-3ededd70d96f
- DOI
- 10.20944/preprints202406.1103.v1