Associated Papers
Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy.
Rao NT et al.
Ophthalmic Genetics, 2024
Gene therapy for RAB28: What can we learn from zebrafish?
Moran AL et al.
Vision Research, 2023
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1
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
Nonsense suppression therapies in ocular genetic diseases.
Wang X et al.
Cellular and Molecular Life Sciences : Cmls, 2015
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
Roosing S et al.
American Journal of Human Genetics, 2013
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