Associated Papers
Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
Akhtar Z et al.
Genes, 2024
Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2024
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
35994252 (PubMed )
Supplement: iovs-63-9-24_s004.xlsx › Sheet1
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
Jin J et al.
Brain Topography, 2022
Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.
Sofia F et al.
Translational Vision Science & Technology, 2020
32855876 (PubMed )
Supplement: tvst-9-8-30_s001.docx
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Fahim AT et al.
The British Journal of Ophthalmology, 2019
The genetic profile of Leber congenital amaurosis in an Australian cohort.
Thompson JA et al.
Molecular Genetics & Genomic Medicine, 2017
29178642 (PubMed )
Supplement: MGG3-5-652-s001.pdf
Genetics and genomic medicine in Slovakia.
Kádaši L et al.
Molecular Genetics & Genomic Medicine, 2015
RDH12 retinopathy: novel mutations and phenotypic description.
Mackay DS et al.
Molecular Vision, 2011
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