Associated Papers
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
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
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L et al.
Ophthalmic Genetics, 2021
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
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X et al.
Retina (philadelphia, Pa.), 2019
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
Li Y et al.
Journal of Zhejiang University. Science. B, 2017
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