A novel compound heterozygous mutation in the DNAH9 gene causes primary ciliary dyskinesia
Author:
Affiliation:
1. Department of Rheumatology and Immunology, Xiangya Hospital, Central South University , Changsha, China
2. Department of Respiration, Hunan Children's Hospital , Changsha, China
Funder
National Natural Science Foundation of China
Hunan National Natural Science Foundation
Publisher
Oxford University Press (OUP)
Link
https://academic.oup.com/qjmed/advance-article-pdf/doi/10.1093/qjmed/hcae154/58821217/hcae154.pdf
Reference5 articles.
1. Diagnosis of primary ciliary dyskinesia;Goutaki;Clin Chest Med,2022
2. Primary ciliary dyskinesia;Wee;Pediatrics,2024
3. Primary ciliary dyskinesia in the genomics age;Lucas;Lancet Respir Med,2020
4. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia;Bartoloni;Genomics,2001
5. Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects;Loges;Am J Hum Genet,2018
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