We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel DNAH9 variants, NM_001372.3: c. [1298C>G];[5547_5550delTGAC], (p.[Ser433Cys];[Asp1850fs]).
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810879 | PMC |
| http://dx.doi.org/10.1038/s41439-020-00134-6 | DOI Listing |
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