Abstract:Hereditary retinal disease (HRD) is a series of Mendelian diseases affecting the retina in the eye. The genetic basis of HRD is very complicated, with more than 100 diseasecausing genes being identified. Though NGS has allowed rapid and large-scale mutation screening of Mendelian disease, the cost of NGS still prevents its universal application all over the world, for an accurate molecular diagnosis. Here, by clinical guidance from patient phenotypes, we performed targeted molecular diagnosis by direct Sanger … Show more
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