Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.Daich Varela M., Moya R., Azevedo Souza Amaral R., Schlottmann P.G., Alvarez Mendiara A., Francone A., Guazi Resende R., Capalbo L., Gelvez N.[...], Ferraz Sallum J.M.View abstractAnnotationClinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.SourceGeneRif: 145226PubMedEurope PMCOphthalmol Retina 8:163-173 (2024)Mapped to3
Pseudocoloboma-like maculopathy with biallelic <i>RDH12</i> missense mutations.Kuo C.Y., Chung M.Y., Chen S.J.View abstractAnnotationPseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.SourceGeneRif: 145226PubMedEurope PMCJ Med Genet 60:859-865 (2023)Mapped to3
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.Fahim A.T., Thompson D.A.View abstractAnnotationstudy of genotype-phenotype correlations in RDH12-associated retinal degeneration (review)SourceGeneRif: 145226PubMedEurope PMCAdv Exp Med Biol 1185:209-213 (2019)Mapped to3