von Hippel-Lindau Syndrome: Genetic Study of Case With a Rare Pathogenic Variant With Optic Nerve Hemangioblastoma, a Rare Phenotypic Expression.
VHL gene
brain neoplasms
hemangioblastoma
optic nerve neoplasms
renal carcinoma
von Hippel-Lindau syndrome
Journal
Frontiers in oncology
ISSN: 2234-943X
Titre abrégé: Front Oncol
Pays: Switzerland
ID NLM: 101568867
Informations de publication
Date de publication:
2020
2020
Historique:
received:
18
09
2019
accepted:
27
01
2020
entrez:
3
3
2020
pubmed:
3
3
2020
medline:
3
3
2020
Statut:
epublish
Résumé
von Hippel-Lindau syndrome (VHLS) is a rare, autosomal dominant genetic disease with high penetrance and variable phenotypic expression caused by variants in the
Identifiants
pubmed: 32117777
doi: 10.3389/fonc.2020.00139
pmc: PMC7033541
doi:
Types de publication
Case Reports
Langues
eng
Pagination
139Informations de copyright
Copyright © 2020 Boratto, Cardoso, Priolli, Botelho, Goldenberg, Bianco and Waisberg.
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