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A skeletal ciliopathy caused by a mutation in INTU gene and is characterized by facial dysmorphism, tongue nodules, developmental delay, and polydactyly. Some individuals may also present with short stature, or other variable syndromic findings.
No clinical trials have been registered for INTU-related skeletal ciliopathy.
59 publications have been identified in PubMed for INTU-related skeletal ciliopathy. Research spans Basic Science / Preclinical (34%), Case Report / Case Series (32%), and Review / Meta-Analysis (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 20 | 34% |
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC
Common questions about INTU-related skeletal ciliopathy
Patient case studies
19 |
32% |
Research summaries | 10 | 17% |
Disease patterns and progression | 6 | 10% |
New treatment approaches | 3 | 5% |
Clinical study results | 1 | 2% |
Pawar N (2026). [PMID: 41703929](https://pubmed.ncbi.nlm.nih.gov/41703929/). *Ophthalmic genetics*. [Review / Meta-Analysis]
Zhu X (2026). [PMID: 41402916](https://pubmed.ncbi.nlm.nih.gov/41402916/). *Prenatal diagnosis*. [Clinical Trial Publication]
Al-Rashdi M (2026). [PMID: 41817618](https://pubmed.ncbi.nlm.nih.gov/41817618/). *Clinical dysmorphology*. [Review / Meta-Analysis]
Alyan D (2026). [PMID: 40797369](https://pubmed.ncbi.nlm.nih.gov/40797369/). *Ophthalmic genetics*. [Case Report / Case Series]
Wongong R (2026). [PMID: 40935806](https://pubmed.ncbi.nlm.nih.gov/40935806/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Im DW (2026). [PMID: 41101718](https://pubmed.ncbi.nlm.nih.gov/41101718/). *American journal of kidney diseases : the official journal of the National Kidney Foundation*. [Epidemiology / Natural History]
Xin D (2026). [PMID: 41352382](https://pubmed.ncbi.nlm.nih.gov/41352382/). *Developmental biology*. [Basic Science / Preclinical]
Zhu P (2026). [PMID: 40924493](https://pubmed.ncbi.nlm.nih.gov/40924493/). *Journal of the American Society of Nephrology : JASN*. [Case Report / Case Series]
Liang C (2026). [PMID: 41810204](https://pubmed.ncbi.nlm.nih.gov/41810204/). *Translational pediatrics*. [Case Report / Case Series]
Arrigo A (2026). [PMID: 41674076](https://pubmed.ncbi.nlm.nih.gov/41674076/). *HGG advances*. [Basic Science / Preclinical]