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Published in 2018 at "Ophthalmology"
DOI: 10.1016/j.ophtha.2017.12.013
Abstract: Purpose To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults…
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Keywords:
mutations cep290;
clinical phenotype;
leber congenital;
congenital amaurosis ... See more keywords