Articles with "crb1 related" as a keyword



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CRB1 related retinal degeneration with novel mutation

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Published in 2020 at "American Journal of Ophthalmology Case Reports"

DOI: 10.1016/j.ajoc.2020.100699

Abstract: Purpose To describe novel and previously unreported genetic mutations in the CRB1 gene in a patient with retinal dystrophy. To increase the genotype-phenotype understanding of CRB1-related retinal degenerative diseases and describe patients’ response to therapy.… read more here.

Keywords: crb1 related; related retinal; novel mutation; retinal degeneration ... See more keywords