Article

A Novel USH2A Variant in a Patient with Hearing Loss and Prenatal Diagnosis of a Familial Fetus: a Case Report and Literature Review

2020-06-18

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Usher syndrome (USH) is the most common cause of inherited deaf-blindness. This study aimed to identify pathogenic mutations in a Chinese patient with hearing loss and reviewed the relevant literature.<bold>Methods: </bold>Genomic DNA obtained from a five-year-old girl with hearing loss was analyzed via the disease-targeted gene panel.<bold> </bold><bold>Results...

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Literature Corpus work: b162834d-ac7a-5828-8a4f-2f01551f3a62
DOI: 10.21203/rs.3.rs-35683/v1

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