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Novel Von Hippel-Lindau Germline Variants in Iranian Patients with Retinal Capillary Hemangioblastoma

Introduction: The aim of this study was to determine the potential genetic cause of retinal capillary hemangioblastoma (RCH) with symptoms of Von Hippel-Lindau (VHL) disease. Case Presentations: Three Iranian families (5 RCH patients) with novel variants are included in this study. The VH...

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Autores principales: Fatemeh Azimi, Kowsar Bagherzadeh, Golnaz Khakpoor, Saeed Talebi, Ahad Sedaghat, Reza Mirshahi, Hengameh Kasraei, Reza Afshar Kiaee, Masood Naseripour
Formato: Artigo
Lenguaje:Inglês
Publicado: Karger Publishers 2025-01-01
Colección:Case Reports in Ophthalmology
Acceso en línea:https://karger.com/article/doi/10.1159/000543119
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