Article

Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020-10-30

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features.<bold>Case presentation: </bold>A 23-year-old man complained of a 10-year duration of nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by...

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Identifiers and source

Literature Corpus work: 60468952-bff1-5064-a063-5738c7a8755a
DOI: 10.21203/rs.3.rs-16667/v6

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