Associated Papers
Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy.
Rao NT et al.
Ophthalmic Genetics, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
Gene therapy for RAB28: What can we learn from zebrafish?
Moran AL et al.
Vision Research, 2023
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
Iarossi G et al.
International Journal of Molecular Sciences, 2020
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.
Jespersgaard C et al.
Investigative Ophthalmology & Visual Science, 2020
A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.
Lee GI et al.
Ophthalmic Genetics, 2017
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