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Article

COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage

4 Dec 2020

Abstract excerpt

Leber congenital amaurosis (LCA), a form of autosomal recessive severe early-onset retinal degeneration, is an important cause of childhood blindness. This may be associated with systemic features or not. Here we identified COG5 compound-heterozygous variants in patients affected with a complex LCA phenotype associated with microcephaly and skeletal dysplasia. COG5 is a component of the COG complex, which...

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PMID: 33277529
DOI: 10.1038/s41598-020-77394-3

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