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A pediatric case of productive cough caused by novel variants in DNAH9
- Source :
- Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
- Publication Year :
- 2021
- Publisher :
- Nature Publishing Group, 2021.
-
Abstract
- Abstract 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]).
Details
- Language :
- English
- ISSN :
- 2054345X
- Volume :
- 8
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Human Genome Variation
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.694c8e7bf4d2482db6f3d3c519609cf4
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41439-020-00134-6