Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.
Lu QK et al.
International Journal of Ophthalmology, 2015
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
Paunescu K et al.
Ophthalmology, 2007
[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].
Preising MN et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2007
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