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Biallelic DAW1variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
- Source :
- Genetics in Medicine; November 2022, Vol. 24 Issue: 11 p2249-2261, 13p
- Publication Year :
- 2022
-
Abstract
- The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 24
- Issue :
- 11
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs61982692
- Full Text :
- https://doi.org/10.1016/j.gim.2022.07.019