Article

The spectrum of germline VHL variants in Iranian patients with Retinal Capillary Hemangioblastoma and genotype-phenotype analysis

2022-06-06

Abstract excerpt

<h4>Backgrounds: </h4>: Retinal capillary hemangioblastoma (RCH) although may also be observed sporadically, is the most frequent and earliest manifestation of the Von Hippel-Lindau disease (VHL). This is the first report of different types of variants spectrum and genotype-phenotype correlations in the Iranian families with RCH. <h4>Methods: </h4>: In this Prospective Observational Case Series study, 17 families...

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Literature Corpus work: d43ced06-5931-540e-8e78-3ded863b7d39
DOI: 10.21203/rs.3.rs-1718935/v1

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