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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Oncol
Egile Nagusiak: Boratto, Sandra Di Felice, Cardoso, Pedro Augusto Soffner, Priolli, Denise Gonçalves, Botelho, Ricardo Vieira, Goldenberg, Alberto, Bianco, Bianca, Waisberg, Jaques
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2020
Gaiak:
Oncology
Sarrera elektronikoa: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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