Associated Papers
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 2025
40232708 (PubMed )
Supplement: iovs-66-4-39_s001.pdf
Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.
Sundaresan Y et al.
Genes, 2024
38927740 (PubMed )
Supplement: genes-15-00804-s001.zip › genes-3051641-supplementary.pdf
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf
Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.
Lin Y et al.
Ophthalmic Genetics, 2020
Retinal dystrophy associated with a Kizuna (KIZ) mutation and a predominantly macular phenotype.
Zhao Y et al.
Ophthalmic Genetics, 2019
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.
Takahashi VKL et al.
Orphanet Journal of Rare Diseases, 2019
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 2019
31341231 (PubMed )
Supplement: 41598_2019_47251_MOESM1_ESM.pdf
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.
El Shamieh S et al.
Genes, 2017
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
El Shamieh S et al.
American Journal of Human Genetics, 2014
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