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Updated: May 31, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

Primary Ciliary Dyskinesia With Situs Inversus in Twin Premature Infants: Two Case Reports

Rui Ma1, Shuangyu Yang2, Ling Zhang2

  • 1Yunxian Township Health Center, 665003 Pu'er, Yunnan, China.

British Journal of Hospital Medicine (London, England : 2005)
|May 30, 2026
PubMed
Summary

Diagnosing primary ciliary dyskinesia (PCD) in newborns with respiratory distress is challenging. Genetic testing for DNAH5 mutations is crucial for timely intervention and preventing lung damage in infants with situs inversus.

Keywords:
case reportgene mutationneonateprimary ciliary dyskinesia

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