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A pediatric case of productive cough caused by novel variants in DNAH9
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....
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| Gepubliceerd in: | Hum Genome Var |
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| Hoofdauteurs: | , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group UK
2021
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7810879/ https://ncbi.nlm.nih.gov/pubmed/33452233 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00134-6 |
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