Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia
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DOI: 10.1159/000512284
Abstract: We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified. Additionally, one had compound… read more here.
Keywords: pde6c gene; variants pde6c; underlying achromatopsia; novel disease ... See more keywords