Open access
Oct 2026
Phenotypic variability of a dominant CRX mutation and molecular insights into pathogenesis.
CRXP197Rfs is a dominant-negative allele that produces cone-rod dystrophy with variable intrafamilial phenotypes that caution against genotype-based prognostication and support mutant-allele knockdown with gene augmentation as therapeutic strategies.
Isabella V. Y. Gomes, Chi Sun, Xiao-Dong Zhang et al.
· Ophthalmic Genetics · 0 citations