Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review

Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000–20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis of...

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Detalles Bibliográficos
Autores principales: Mori, Mayako, Kido, Takashi, Sakamoto, Noriho, Ozasa, Mutsumi, Kido, Kumiko, Noguchi, Yasuko, Tokito, Takatomo, Okuno, Daisuke, Yura, Hirokazu, Hara, Atsuko, Ishimoto, Hiroshi, Suematsu, Takashi, Obase, Yasushi, Tanaka, Yoshimasa, Izumikawa, Koichi, Takeuchi, Kazuhiko, Mukae, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821625/
https://www.ncbi.nlm.nih.gov/pubmed/36615117
http://dx.doi.org/10.3390/jcm12010317

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821625/
https://www.ncbi.nlm.nih.gov/pubmed/36615117
http://dx.doi.org/10.3390/jcm12010317

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