Article

High prevalence of exon-13 variants in USH2A-related retinal dystrophy in Taiwanese population

2023-09-11

Abstract excerpt

<title>Abstract</title> <p>Background <italic>USH2A</italic> is a common disease-causing gene leading to Usher syndrome, which is an autosomal recessive disorder characterized by retinitis pigmentosa, and was shown to have geographical and ethnical distribution in previous studies. This study provided a deeper understanding of the detailed clinical features using multimodal imaging, genetic spectrum, and genotyp...

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Literature Corpus work: 6b930bfb-12cc-5fbe-9f0d-8d7e9dbf1dfc
DOI: 10.21203/rs.3.rs-3239074/v1

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