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
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
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
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