A study identifies dual mutations in CEP290 and GLI3 in an infant presenting with Leber congenital amaurosis and postaxial polydactyly, resembling Bardet-Biedl syndrome. This research enhances understanding of genetic contributions to these rare conditions.
dual molecular diagnosis of cep290 and gli3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly a bardet biedl syndrome phenocopy
Original title: “Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy.”