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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...

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Detalles Bibliográficos
Autores principales:	Kolesnikova, Masha, Lima de Carvalho, Jose Ronaldo, Oh, Jin Kyun, Soucy, Megan, Demirkol, Aykut, Kim, Angela H., Tsang, Stephen H., Breazzano, Mark P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2023
Materias:	Retina
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

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