Associated Papers
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R et al.
Npj Genomic Medicine, 2024
39516462 (PubMed )
Supplement: 41525_2024_439_MOESM1_ESM.pdf
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R et al.
Research Square, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases.
Shinbashi M et al.
Clinical Case Reports, 2023
Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma.
Yang S et al.
Frontiers in Medicine, 2023
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
McInerney-Leo AM et al.
American Journal of Medical Genetics. Part A, 2017
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
Suga A et al.
Investigative Ophthalmology & Visual Science, 2016
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
Khan AO et al.
The British Journal of Ophthalmology, 2015
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