Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review
Abstract
:1. Introduction
2. Case Presentation
3. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
CBA | ciliary beat amplitude |
CBF | ciliary beat frequency |
CPC | central pair complex |
PCD | primary ciliary dyskinesia |
HRCT | high-resolution computed tomography |
%FEV1 | predicted value of forced expiratory volume in 1 s |
References
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Mori, M.; Kido, T.; Sakamoto, N.; Ozasa, M.; Kido, K.; Noguchi, Y.; Tokito, T.; Okuno, D.; Yura, H.; Hara, A.; et al. Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review. J. Clin. Med. 2023, 12, 317. https://doi.org/10.3390/jcm12010317
Mori M, Kido T, Sakamoto N, Ozasa M, Kido K, Noguchi Y, Tokito T, Okuno D, Yura H, Hara A, et al. Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review. Journal of Clinical Medicine. 2023; 12(1):317. https://doi.org/10.3390/jcm12010317
Chicago/Turabian StyleMori, Mayako, Takashi Kido, Noriho Sakamoto, Mutsumi Ozasa, Kumiko Kido, Yasuko Noguchi, Takatomo Tokito, Daisuke Okuno, Hirokazu Yura, Atsuko Hara, and et al. 2023. "Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review" Journal of Clinical Medicine 12, no. 1: 317. https://doi.org/10.3390/jcm12010317