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Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes
PURPOSE: To describe the phenotype of CLN-associated retinal dystrophy in a subset of patients at the Columbia University Medical Center, United States, and the Hospital das Clínicas de Pernambuco, Brazil, in comparison to the published literature. METHODS: Eleven patients with confirmed biallelic v...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Association for Research in Vision and Ophthalmology
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019488/ https://www.ncbi.nlm.nih.gov/pubmed/36912596 http://dx.doi.org/10.1167/iovs.64.3.23 |