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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
Main Authors: Sandra Di Felice Boratto, Pedro Augusto Soffner Cardoso, Denise Gonçalves Priolli, Ricardo Vieira Botelho, Alberto Goldenberg, Bianca Bianco, Jaques Waisberg
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2020-02-01
Serier:Frontiers in Oncology
Fag:
Online adgang:https://www.frontiersin.org/article/10.3389/fonc.2020.00139/full
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