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[Primary ciliary dyskinesia associated with a novel DNAH11 genetic variant: a case report].

K L DengL ShiX L WangX L Chen
Published in: Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases (2024)
Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder associated with abnormalities in ciliary structure and function. Here, we report A 22-year-old non-smoking Chinese man with recurrent episodes of respiratory tract infections and sinusitis since high school period. The diagnosis is more complicated by the atypical symptoms and the late age of onset. We summarized the clinical characteristics of this case and literature review. This report aimed to improve the clinical understanding of primary ciliary dyskinesia.
Keyphrases
  • respiratory tract
  • genome wide
  • high school
  • case report
  • copy number
  • gene expression
  • depressive symptoms