Associated Papers
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
Georgiou M et al.
American Journal of Ophthalmology, 2024
De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
Gombosh M et al.
Clinical Genetics, 2023
Single particle cryo-EM of the complex between interphotoreceptor retinoid-binding protein and a monoclonal antibody.
Sears AE et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf
Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
Arno G et al.
Investigative Ophthalmology & Visual Science, 2015
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