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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Detalles Bibliográficos
Autores principales: Boratto, Sandra Di Felice, Cardoso, Pedro Augusto Soffner, Priolli, Denise Gonçalves, Botelho, Ricardo Vieira, Goldenberg, Alberto, Bianco, Bianca, Waisberg, Jaques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7033541/
https://www.ncbi.nlm.nih.gov/pubmed/32117777
http://dx.doi.org/10.3389/fonc.2020.00139

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