Article

Identification of <i>Arhgef12</i> and <i>Prkci</i> as Genetic Modifiers of Retinal Dysplasia in the <i> Crb1 <sup>rd8</sup> </i> Mouse Model

2021-09-03

Abstract excerpt

Mutations in the apicobasal polarity gene CRB1 lead to diverse retinal diseases, such as Leber congenital amaurosis, cone-rod dystrophy, retinitis pigmentosa (with and without Coats-like vasculopathy), foveal retinoschisis, macular dystrophy, and pigmented paravenous chorioretinal atrophy. Limited correlation between disease phenotypes and CRB1 alleles, and evidence that patients sharing the same alleles often p...

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Literature Corpus work: 250138e8-88b0-5d50-901e-8521e6b73581
DOI: 10.1101/2021.09.02.458662

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Identification of <i>Arhgef12</i> and <i>Prkci</i> as Genetic Modifiers of Retinal Dysplasia in the <i> Crb1 <sup>rd8</sup> </i> Mouse ModelDOI 10.1101/2021.09.02.458662Read

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