Syndroom van Rubinstein-Taybi door CREBBP-mutaties
ORPHA:353277· ICD-10 Q87.2· Rubinstein-Taybi syndrome due to CREBBP mutations
- Overerving
- Autosomal dominant
- Leeftijd van aanvang
- Antenatal, Neonatal
ORPHA:353277· ICD-10 Q87.2· Rubinstein-Taybi syndrome due to CREBBP mutations