Article

Genetic modifiers of <i>Cep290</i> -mediated retinal degeneration

2022-01-28

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in CEP290 cause up to 30% of cases of Leber congenital amaurosis (LCA), a severe childhood blindness resulting from abnormalities in the photoreceptor connecting cilia that lead to rapid retinal degeneration. Like many genetic diseases, CEP290-LCA has considerable variable expressivity, indicating the presence of other factors that influence phenotypic outcome. Here, we have undertake...

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Literature Corpus work: 65d27bbd-e636-5850-bde5-f7522752ef50
DOI: 10.1101/2022.01.26.477596

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