Overview
Gene (OMIM no.) |
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Function of gene/protein |
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Clinical phenotype (with OMIM phenotype no.) |
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Inheritance |
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Ocular features | |
Visual function |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management |
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Therapies under research |
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Further information |
References
- Weston MD, Luijendijk MWJ, Humphrey KD, Moller C, Kimberling WJ. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet. 2004;74(2):357-366.
- McGee J, Goodyear RJ, McMillan DR, et al. The very large G-protein-coupled receptor Vlgr1: A component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci. 2006;26(24):6543-6553.
- Yagi H, Tokano H, Maeda M, et al. Vlgr1 is required for proper stereocilia maturation of cochlear hair cells. Genes Cells. 2007;12(2):235-250.
- Maerker T, van Wijk E, Overlack N, et al. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet. 2008;17(1):71-86.