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Classical Timothy syndrome with cutaneous syndactyly.
No clinical trials have been registered for Timothy syndrome type 1.
12 publications have been identified in PubMed for Timothy syndrome type 1. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Review / Meta-Analysis (8%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 6 | 50% |
Patient case studies | 3 | 25% |
Research summaries | 1 | 8% |
Clinical study results | 1 | 8% |
Disease patterns and progression | 1 |
Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 4:51 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Timothy syndrome type 1
Simone F (2026). [PMID: 41699000](https://pubmed.ncbi.nlm.nih.gov/41699000/). *Sci Rep*. [Basic Science / Preclinical]
Salveson I (2026). [PMID: 41859936](https://pubmed.ncbi.nlm.nih.gov/41859936/). *Biochemistry*. [Basic Science / Preclinical]
Fanucci V (2025). [PMID: 40615216](https://pubmed.ncbi.nlm.nih.gov/40615216/). *JACC Case Rep*. [Case Report / Case Series]
Stringer RN (2025). [PMID: 40133997](https://pubmed.ncbi.nlm.nih.gov/40133997/). *Mol Brain*. [Case Report / Case Series]
Craddock R (2025). [PMID: 40576621](https://pubmed.ncbi.nlm.nih.gov/40576621/). *Cereb Cortex*. [Basic Science / Preclinical]
Yu L (2025). [PMID: 40526200](https://pubmed.ncbi.nlm.nih.gov/40526200/). *J Cardiovasc Transl Res*. [Clinical Trial Publication]
Semenova SA (2025). [PMID: 40568156](https://pubmed.ncbi.nlm.nih.gov/40568156/). *bioRxiv*. [Basic Science / Preclinical]
Trancuccio A (2024). [PMID: 39616198](https://pubmed.ncbi.nlm.nih.gov/39616198/). *Sci Rep*. [Basic Science / Preclinical]
Matsui M (2024). [PMID: 39420001](https://pubmed.ncbi.nlm.nih.gov/39420001/). *Nat Commun*. [Basic Science / Preclinical]
Cipriano L (2024). [PMID: 38790536](https://pubmed.ncbi.nlm.nih.gov/38790536/). *Children (Basel)*. [Review / Meta-Analysis]