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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Detalhes bibliográficos
Publicado no:Front Oncol
Main Authors: Boratto, Sandra Di Felice, Cardoso, Pedro Augusto Soffner, Priolli, Denise Gonçalves, Botelho, Ricardo Vieira, Goldenberg, Alberto, Bianco, Bianca, Waisberg, Jaques
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Oncology
Acesso em linha: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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