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Any ciliopathy caused by variants in the CFAP418 gene, including cases diagnosed as Bardet-Biedl syndrome 21, cone-rod dystrophy 16, or retinitis pigmentosa 64.
Biomarker and diagnostic research for CFAP418-related ciliopathy has been reported in the published literature.
No clinical trials have been registered for CFAP418-related ciliopathy.
301 publications have been identified in PubMed for CFAP418-related ciliopathy. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (31%), and Epidemiology / Natural History (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 100 | 33% |
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
Common questions about CFAP418-related ciliopathy
93 |
31% |
Disease patterns and progression | 39 | 13% |
Patient case studies | 27 | 9% |
New treatment approaches | 21 | 7% |
Clinical study results | 10 | 3% |
Testing and diagnosis research | 8 | 3% |
Other research | 3 | 1% |
Bechtel-Walz W (2026). [PMID: 41871549](https://pubmed.ncbi.nlm.nih.gov/41871549/). *Dtsch Med Wochenschr*. [Review / Meta-Analysis]
Fang HS (2026). [PMID: 40971543](https://pubmed.ncbi.nlm.nih.gov/40971543/). *Eur J Ophthalmol*. [Basic Science / Preclinical]
Brewer KM (2026). [PMID: 41512914](https://pubmed.ncbi.nlm.nih.gov/41512914/). *Dev Biol*. [Basic Science / Preclinical]
Duijzer R (2026). [PMID: 40793999](https://pubmed.ncbi.nlm.nih.gov/40793999/). *Liver Transpl*. [Epidemiology / Natural History]
Hardy EP (2026). [PMID: 41748625](https://pubmed.ncbi.nlm.nih.gov/41748625/). *Nat Commun*. [Basic Science / Preclinical]
Liu R (2026). [PMID: 41557100](https://pubmed.ncbi.nlm.nih.gov/41557100/). *CEN Case Rep*. [Review / Meta-Analysis]
Bou Antoun MT (2026). [PMID: 41212622](https://pubmed.ncbi.nlm.nih.gov/41212622/). *J Am Soc Nephrol*. [Review / Meta-Analysis]
Outeda P (2026). [PMID: 41077129](https://pubmed.ncbi.nlm.nih.gov/41077129/). *Kidney Int*. [Basic Science / Preclinical]
Bilgiç I (2026). [PMID: 41981340](https://pubmed.ncbi.nlm.nih.gov/41981340/). *Eur J Pediatr*. [Diagnostic / Biomarker]
Petzold F (2026). [PMID: 41343253](https://pubmed.ncbi.nlm.nih.gov/41343253/). *Clin J Am Soc Nephrol*. [Epidemiology / Natural History]