Associated Papers
Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.
AlEissa MM et al.
Genes, 2025
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Daich Varela M et al.
Ophthalmology. Retina, 2024
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2014
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Sun W et al.
Vision Research, 2007
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Thompson DA et al.
Human Molecular Genetics, 2005
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Perrault I et al.
American Journal of Human Genetics, 2004
Select a paper to view details