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

Ophthalmic genetics - 1 Jun 2023

Naseripour Masood, Azimi Fatemeh, Talebi Said, Mirshahi Reza, Kiaee Reza, Sedaghat Ahad, Zohre Ataei Kachoei, Khakpour Golnaz

Abstract excerpt

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 genotype-phenotype correlations in Iranian families with RCH. MATERIALS AND METHODS: In this prospective observational case series study, 17 families with RCH were included. PCR was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36715412
DOI: 10.1080/13816810.2022.2138455

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