Article
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration.
Ophthalmic genetics - 1 Dec 2024
Borchert Grace A, Shanks Morag E, Whitfield Jennifer, Clouston Penny, Raji Shabnam, Sperring Sian, Thompson Jennifer A, Xue Kanmin, De Silva Samantha R, Downes Susan M, MacLaren Robert E, Cehajic-Kapetanovic Jasmina
Abstract excerpt
BACKGROUND: CFAP410 (Cilia and Flagella Associated Protein 410) encodes a protein that has an important role in the development and function of cilia. In ophthalmology, pathogenic variants in CFAP410 have been described in association with cone rod dystrophy, retinitis pigmentosa, with or without macular staphyloma, or with systemic abnormalities such as skeletal dysplasia and amyotrophic lateral sclerosis....
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