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Cerebral Visual Impairment: genetic diagnoses and phenotypic associations

2023-10-03 genetic and genomic medicine Title + abstract only
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BackgroundCerebral visual impairment (CVI) is the commonest form of paediatric visual impairment in developed countries. CVI can arise from a host of genetic or acquired causes, but there has been limited research to date on CVI in the context of genetic disorders. MethodsWe carried out a retrospective analysis of genotypic and phenotypic data for participants with CVI within the DECIPHER database and 100,000 Genomes Project (100KGP). Results158 individuals with CVI were identified across both...

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