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Keywords: ciliopathies
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Biochem Soc Trans (2016) 44 (5): 1235–1244.
Published: 19 October 2016
...%) develop classic RP, cone dystrophy, cone-rod dystrophy, atrophic macular degeneration and systemic ciliopathies have all been documented [ 26 – 30 ]. Large patient cohorts have attempted to determine disease patterns, with genotype–phenotype concordance being observed regarding field loss patterns...