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Any ciliopathy caused by variants in the MKS1 gene.
No clinical trials have been registered for MKS1-related ciliopathy.
2 publications have been identified in PubMed for MKS1-related ciliopathy. Research spans Basic Science / Preclinical (100%).
He R (2026). [PMID: 41165761](https://pubmed.ncbi.nlm.nih.gov/41165761/). *The Journal of clinical investigation*. [Basic Science / Preclinical]
Türk S (2025). [PMID: 42044428](https://pubmed.ncbi.nlm.nih.gov/42044428/). *Turk Arch Pediatr*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC
Common questions about MKS1-related ciliopathy