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Article

Cerebral visual impairment: genetic diagnoses and phenotypic associations.

Journal of medical genetics - 21 May 2024

Shaw Emogene, Flitcroft Ian, Bowman Richard, Baker Kate

Abstract excerpt

BACKGROUND: Cerebral visual impairment (CVI) is the most common 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. METHODS: We carried out a retrospective analysis of genotypic and phenotypic data for participants with CVI within the DECIPHER database and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38458753
DOI: 10.1136/jmg-2023-109670
PMCID: PMC11137471

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