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Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP46 gene.
Biomarker and diagnostic research for CFAP46-related primary ciliary dyskinesia has been reported in the published literature.
No clinical trials have been registered for CFAP46-related primary ciliary dyskinesia.
205 publications have been identified in PubMed for CFAP46-related primary ciliary dyskinesia. Kisho has analyzed 152 by research type. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (18%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 57 | 38% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC
Common questions about CFAP46-related primary ciliary dyskinesia
Laboratory research |
37 |
24% |
Disease patterns and progression | 27 | 18% |
Patient case studies | 14 | 9% |
Other research | 7 | 5% |
Testing and diagnosis research | 4 | 3% |
Clinical study results | 3 | 2% |
New treatment approaches | 3 | 2% |
Robson EA (2026). [PMID: 41561099](https://pubmed.ncbi.nlm.nih.gov/41561099/). *ERJ Open Res*. [Review / Meta-Analysis]
Greydanus DE (2026). [PMID: 42135132](https://pubmed.ncbi.nlm.nih.gov/42135132/). *Dis Mon*. [Epidemiology / Natural History]
Unknown (2026). [PMID: 41855307](https://pubmed.ncbi.nlm.nih.gov/41855307/). *Horm Res Paediatr*. [Other]
Viitanen SJ (2026). [PMID: 42062104](https://pubmed.ncbi.nlm.nih.gov/42062104/). *Vet Clin North Am Small Anim Pract*. [Review / Meta-Analysis]
Haarman EG (2026). [PMID: 41928691](https://pubmed.ncbi.nlm.nih.gov/41928691/). *Pediatr Pulmonol*. [Review / Meta-Analysis]
Khalaili L (2026). [PMID: 40610053](https://pubmed.ncbi.nlm.nih.gov/40610053/). *Eur Respir J*. [Epidemiology / Natural History]
Karavasiloglou N (2026). [PMID: 42203237](https://pubmed.ncbi.nlm.nih.gov/42203237/). *Eur Respir Rev*. [Review / Meta-Analysis]
Hao M (2026). [PMID: 42113888](https://pubmed.ncbi.nlm.nih.gov/42113888/). *Am J Respir Cell Mol Biol*. [Basic Science / Preclinical]
Gao Y (2026). [PMID: 40847540](https://pubmed.ncbi.nlm.nih.gov/40847540/). *Hum Reprod Update*. [Review / Meta-Analysis]
Leikin JB (2026). [PMID: 42144310](https://pubmed.ncbi.nlm.nih.gov/42144310/). *Dis Mon*. [Other]