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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Autores principales: Sandra Di Felice Boratto, Pedro Augusto Soffner Cardoso, Denise Gonçalves Priolli, Ricardo Vieira Botelho, Alberto Goldenberg, Bianca Bianco, Jaques Waisberg
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2020-02-01
Colección:Frontiers in Oncology
Materias:
von Hippel-Lindau syndrome
hemangioblastoma
optic nerve neoplasms
brain neoplasms
renal carcinoma
VHL gene
Acceso en línea:https://www.frontiersin.org/article/10.3389/fonc.2020.00139/full
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