Associated Papers
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations.
Clark AM et al.
Jci Insight, 2024
37971880 (PubMed )
Supplement: jciinsight-9-162621-s010.pdf
A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India.
Goyal S et al.
Bmc Ophthalmology, 2023
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.
Rahner N et al.
Ophthalmic Genetics, 2016
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Ravesh Z et al.
Molecular Vision, 2015
Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
van Huet RA et al.
Investigative Ophthalmology & Visual Science, 2013
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Estrada-Cuzcano A et al.
American Journal of Human Genetics, 2012
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