von Hippel-Lindau Syndrome: Genetic Study of Case With a Rare Pathogenic Variant With Optic Nerve Hemangioblastoma, a Rare Phenotypic Expression

von Hippel-Lindau syndrome (VHLS) is a rare, autosomal dominant genetic disease with high penetrance and variable phenotypic expression caused by variants in the VHL gene. VHLS is associated with the presence of vascular tumors, often hemangioblastoma of the central nervous system, retina, or spinal...

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Bibliographic Details
Published in:Front Oncol
Main Authors: Boratto, Sandra Di Felice, Cardoso, Pedro Augusto Soffner, Priolli, Denise Gonçalves, Botelho, Ricardo Vieira, Goldenberg, Alberto, Bianco, Bianca, Waisberg, Jaques
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2020
Subjects:
Oncology
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7033541/
https://ncbi.nlm.nih.gov/pubmed/32117777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fonc.2020.00139
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