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Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.

Justin A PaterJane GreenDarren D O'RiellyAnne GriffinJessica SquiresTaylor BurtSara FernandezBridget FernandezJim HoustonJiayi ZhouNicole M RoslinTerry-Lynn Young
Published in: BMC medical genetics (2019)
These findings provide empirical evidence to increase Usher syndrome surveillance of at-risk children. Given that novel antisense oligonucleotide therapies have been shown to rescue retinal degeneration caused by USH2A splicing pathogenic variants, these solved USH2A patients may now be eligible to be enrolled in therapeutic trials.
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