A Case of Chronic Rhinosinusitis Caused by Primary Ciliary Dyskinesia Associated with Mutations of the <i>DNAH8</i> Gene
Author:
Affiliation:
1. Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine
2. Matsuwaki Clinic Shinagawa
Publisher
Oto-Rhino-Laryngological Society of Japan, Inc.
Link
https://www.jstage.jst.go.jp/article/jibiinkotokeibu/125/9/125_1384/_pdf
Reference15 articles.
1. 1) Takeuchi K, Kitano M, Kiyotoshi H, et al: A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. Auris Nasus Larynx 2018; 45: 585-591.
2. 2) 竹内万彦: 原発性線毛運動不全症―診断のヒント. 小児耳 2017; 38: 245-252.
3. 3) Zariwala MA, Knowles MR, MW Leigh MW: Primary ciliary dyskinesia. Adam MP, Mirzaa GM, Pagon RA, et al (eds). GeneReviews®; 1993.
4. 4) Knowles MR, Daniels LA, Davis SD, et al: Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med 2013; 188: 913-922.
5. 5) Takeuchi K, Xu Y, Kitano M, et al: Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population. Mol Genet Genomic Med 2020; 8: e1137.
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