Articles with "vhl variants" as a keyword



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

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Published in 2023 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2022.2138455

Abstract: ABSTRACT Background Retinal capillary hemangioblastoma (RCH), while sporadic in some cases, is the most common and earliest manifestation of von Hippel-Lindau disease (VHL). This is the first report on different types of VHL variants and… read more here.

Keywords: retinal capillary; capillary hemangioblastoma; vhl variants; genotype phenotype ... See more keywords