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Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis.

Masood NaseripourFatemeh AzimiSaid TalebiReza MirshahiReza KiaeeAhad SedaghatAtaei Kachoei ZohreGolnaz Khakpour
Published in: Ophthalmic genetics (2023)
α domain of VHL may play a potential role in the pathogenesis of RCH. Our findings suggest that genotype-phenotype characteristics in those variants in α- domain may predispose patients to RCH with CNS-HB.
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