Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials

PURPOSE: To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults. DESIGN: Retrospective case series. PARTICIPANTS: Patients with a detailed clinical phenotype consistent with ARB, biallelic l...

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Detalhes bibliográficos
Publicado no:Ophthalmology
Main Authors: Casalino, Giuseppe, Khan, Kamron N., Armengol, Monica, Wright, Genevieve, Pontikos, Nikolas, Georgiou, Michalis, Webster, Andrew R., Robson, Anthony G., Grewal, Parampal S., Michaelides, Michel
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8062850/
https://ncbi.nlm.nih.gov/pubmed/33039401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2020.10.006
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