Targeted syndrom under study
This is a milder form of Rubinstein-Taybi without thumb defect and a different face including upslanting instead of downslanting palpebral fissures. Mutations are usually de novo and found in exon 30 or 31 of CREBBP.
Colleagues can contact the below addresses if they have patients.
University of Siena, Italy
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic: No