Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies
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DOI: 10.1111/cge.13426
Abstract: Retinal dystrophies (RDs) are hereditary blinding eye conditions that are highly variable in their clinical presentation. The remarkable genetic heterogeneity that characterizes RD was a major challenge in establishing the molecular diagnosis in these patients… read more here.
Keywords: genes account; retinal dystrophies; autosomal recessive; disease genes ... See more keywords