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Germline Mutation of von Hippel–Lindau (VHL) Gene 695 G>A (R161Q) in a Patient with a Peculiar Phenotype with Type 2C VHL Syndrome

✍ Scribed by LIBERO SANTARPIA; DANIELA LAPA; SALVATORE BENVENGA


Book ID
111479545
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
126 KB
Volume
1073
Category
Article
ISSN
0890-6564

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## Abstract Von Hippel–Lindau (VHL) disease type 2A is an inherited tumor syndrome characterized by predisposition to pheochromocytoma (pheo), retinal hemangioma (RA), and central nervous system hemangioblastoma (HB). Specific VHL subtypes display genotype–phenotype correlations but, unlike other f