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