Associated Papers
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.
Malechka VV et al.
Genes, 2022
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.
Haque MN et al.
Human Genome Variation, 2019
30992995 (PubMed )
Supplement: 41439_2019_48_MOESM3_ESM.pdf
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N et al.
Plos One, 2016
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