Article

Novel mutations of the USH2A gene and clinical phenotypes in Chinese Usher syndrome families

2022-02-21

Abstract excerpt

<h4>Background: </h4> Usher syndrome (USH) is a leading disorder of deaf–blindness. The phenotypic and genetic heterogeneity of USH makes the diagnosis of this disorder difficult. However, diagnosis can be facilitated by employing molecular approaches, especially for diseases without pronounced pathognomonic symptoms. Therefore, this study aimed to reveal the genetic defects in five USH patients using clinical tar...

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Literature Corpus work: 39266eba-619e-5507-8d3c-0303af895c1f
DOI: 10.21203/rs.3.rs-1333948/v1

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