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A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?

Molecular genetics and genomics : MGG - 1 Nov 2022

Azimi Fatemeh, Aghajani Ali, Khakpour Golnaz, Chaibakhsh Samira

Abstract excerpt

Retinal capillary hemangioblastomas (RCH) is a benign tumor that represents the initial manifestation in roughly half of Von Hippel Lindau (VHL) patients. They may also occur sporadically without systemic involvement. A first meta-analysis study was investigated to estimate the prevalence of Retinal capillary hemangioblastoma (RCH) in Von Hippel Lindau (VHL) syndrome, and its relation to type and location of...

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PMID: 36006455
DOI: 10.1007/s00438-022-01940-z

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