Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

ABSTRACT: In this work, using exome sequencing, we identified biallelic PNLPA6 mutations in patients with childhood blindness due to severe photoreceptor death and clinical features of Leber congenital amaurosis (LCA) and, interestingly, also of the rare Oliver McFarlane Syndrome

PROVIDER: EGAS00001001013 | EGA |

REPOSITORIES: EGA