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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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
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
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh L et al.
Genome Research, 2013
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