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
Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.
Zhang X et al.
Pediatric Rheumatology Online Journal, 2023
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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