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
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R et al.
Research Square, 2024
Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy.
Li X et al.
Investigative Ophthalmology & Visual Science, 2023
38153748 (PubMed )
Supplement: iovs-64-15-44_s006.xlsx › Table_S1
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
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Wang Z et al.
Plos One, 2016
Select a paper to view details