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Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.
Biomarker and diagnostic research for IFT140-related recessive ciliopathy has been reported in the published literature.
No clinical trials have been registered for IFT140-related recessive ciliopathy.
203 publications have been identified in PubMed for IFT140-related recessive ciliopathy. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (21%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 66 | 33% |
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 5:21 PM UTC
Common questions about IFT140-related recessive ciliopathy
Laboratory research
46 |
23% |
Disease patterns and progression | 43 | 21% |
Research summaries | 16 | 8% |
New treatment approaches | 10 | 5% |
Testing and diagnosis research | 9 | 4% |
Clinical study results | 9 | 4% |
Other research | 4 | 2% |
Ten Berge SH (2026). [PMID: 42249584](https://pubmed.ncbi.nlm.nih.gov/42249584/). *J Hand Surg Eur Vol*. [Epidemiology / Natural History]
Barboni M (2026). [PMID: 41691573](https://pubmed.ncbi.nlm.nih.gov/41691573/). *Documenta ophthalmologica. Advances in ophthalmology*. [Basic Science / Preclinical]
Abola MV (2026). [PMID: 41037671](https://pubmed.ncbi.nlm.nih.gov/41037671/). *Journal of pediatric orthopedics*. [Basic Science / Preclinical]
Khan H (2026). [PMID: 41786235](https://pubmed.ncbi.nlm.nih.gov/41786235/). *Bone*. [Basic Science / Preclinical]
Bae DS (2026). [PMID: 41500756](https://pubmed.ncbi.nlm.nih.gov/41500756/). *J Hand Surg Am*. [Epidemiology / Natural History]
Lu M (2026). [PMID: 42252464](https://pubmed.ncbi.nlm.nih.gov/42252464/). *J Orthop Surg Res*. [Clinical Trial Publication]
Hiraoka M (2026). [PMID: 42212888](https://pubmed.ncbi.nlm.nih.gov/42212888/). *Transl Vis Sci Technol*. [Diagnostic / Biomarker]
Tang J (2026). [PMID: 42095020](https://pubmed.ncbi.nlm.nih.gov/42095020/). *Front Genet*. [Case Report / Case Series]
Yilmaz Gulec E (2026). [PMID: 42232679](https://pubmed.ncbi.nlm.nih.gov/42232679/). *Mol Syndromol*. [Epidemiology / Natural History]
Gomes A (2026). [PMID: 40799178](https://pubmed.ncbi.nlm.nih.gov/40799178/). *Am J Med Genet A*. [Case Report / Case Series]