article_metadata: Hane Lee Dongseok Moon Rin Khang Go Hun Seo Chang Ki Yoon Un Chul Park Kyu Hyung Park Eun Kyoung Lee
article_metadata: 10.1002/mgg3.70060
article_metadata: Mol Genet Genomic Med
article_metadata: 2025 Jan;13(1):e70060.
article_metadata: rpe65 leber congenital amaurosis exome sequencing gene therapy uniparental isodisomy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39835736/
article_metadata: Homozygote Leber Congenital Amaurosis / genetics Leber Congenital Amaurosis / pathology Uniparental Disomy / genetics Uniparental Disomy / pathology cis-trans-Isomerases / genetics
article_metadata: Homozygote Leber Congenital Amaurosis / genetics Leber Congenital Amaurosis / pathology Uniparental Disomy / genetics Uniparental Disomy / pathology cis-trans-Isomerases / genetics Case Reports Adult Frameshift Mutation Genetic Therapy Humans Male Republic of Korea cis-trans-Isomerases retinoid isomerohydrolase
article_metadata: PMC11748124
article_metadata: 39835736
article_metadata: A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
article_metadata: 2025