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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Bibliografiske detaljer
Udgivet i: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
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2020
Fag:
Oncology
Online adgang: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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