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Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family

✍ Scribed by T. Mete, D. Berker, E. Yilmaz, G. Ozgen, Y. Yalcin, M. Tuna, D. Ciliz, M. Onen…


Book ID
120898191
Publisher
Springer
Year
2013
Tongue
English
Weight
345 KB
Volume
45
Category
Article
ISSN
0969-711X

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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