Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
De Zaeytijd J, Coppieters F, De Bruyne M, Van Royen J, Roels D, Six R, Van Cauwenbergh C, De Baere E, Leroy BP. Ophthalmic Genet. 2021 Oct; 42(5):521-532. Epub 2021 May 5.