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Any ciliopathy in which the cause of the disease is a variant in the TUBB4B gene. Please note that patient diagnoses can include disorders such as Leber congenital amaurosis and/or primary ciliary dyskinesia.
Biomarker and diagnostic research for TUBB4B-related ciliopathy has been reported in the published literature.
No clinical trials have been registered for TUBB4B-related ciliopathy.
5 publications have been identified in PubMed for TUBB4B-related ciliopathy. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Diagnostic / Biomarker (20%).
La Paglia L (2025). [PMID: 40443667](https://pubmed.ncbi.nlm.nih.gov/40443667/). *Frontiers in immunology*. [Basic Science / Preclinical]
Mollica A (2025). [PMID: 41309602](https://pubmed.ncbi.nlm.nih.gov/41309602/). *Nature communications*. [Basic Science / Preclinical]
de Ceuninck van Capelle C (2025). [PMID: 40746421](https://pubmed.ncbi.nlm.nih.gov/40746421/). *Frontiers in molecular biosciences*. [Diagnostic / Biomarker]
Horani A (2025). [PMID: 40948093](https://pubmed.ncbi.nlm.nih.gov/40948093/). *Current opinion in pulmonary medicine*. [Review / Meta-Analysis]
Despotes KA (2024). [PMID: 38891105](https://pubmed.ncbi.nlm.nih.gov/38891105/). *Cells*. [Review / Meta-Analysis]
Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 11:36 PM UTC
Common questions about TUBB4B-related ciliopathy