A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature.
Chiu N, Lee W, Liu PK, Levi SR, Wang HH, Chen N, Kang EY, Seo GH, Lee H, Liu L, et al. Ophthalmic Genet. 2022 Jun; 43(3):378-384. Epub 2021 Dec 16.