Associated Papers
Primary ciliary dyskinesia in a Japanese woman caused by a novel RSPH4A variant.
Ogata R et al.
Respiratory Investigation, 2025
Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report.
Xu W et al.
Frontiers in Pediatrics, 2025
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
Xu Y et al.
Journal of Human Genetics, 2023
Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia-Related Infertility in Three Chinese Families.
Wang L et al.
Frontiers in Genetics, 2022
Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.
Takeuchi K et al.
Molecular Genetics & Genomic Medicine, 2020
31960620 (PubMed )
Supplement: MGG3-8-e1137-s003.xlsx › Sheet1
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