Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
No clinical trials have been registered for KAT6B-related multiple congenital anomalies syndrome.
4 publications have been identified in PubMed for KAT6B-related multiple congenital anomalies syndrome. Research spans Case Report / Case Series (25%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).
Maglione V (2025). [PMID: 40277451](https://pubmed.ncbi.nlm.nih.gov/40277451/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Robinson KR (2025). [PMID: 41056948](https://pubmed.ncbi.nlm.nih.gov/41056948/). *American journal of human genetics*. [Epidemiology / Natural History]
Bergamasco MI (2025). [PMID: 40000651](https://pubmed.ncbi.nlm.nih.gov/40000651/). *Nature communications*. [Basic Science / Preclinical]
Bergamasco MI (2024). [PMID: 38557491](https://pubmed.ncbi.nlm.nih.gov/38557491/). *The Journal of clinical investigation*. [Gene Therapy / Novel Therapeutics]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:52 AM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about KAT6B-related multiple congenital anomalies syndrome