This website provides information on patients with mutations in the CREBBPgene, including clinical data, molecular data, management and research options.
The Rubinstein-Taybi syndrome caused by mutations in the CREBBPgene is a multisystem disorder characterized by typical facial dysmorphism, distal limb abnormalities, intellectual disability and many additional features.
Not all individuals with a pathogenic mutation in the CREBBPgene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CREBBPgene.
Julien van Gils, MD, PhD student, CHU Bordeaux, Bordeaux, France, Julien.vangils@chu-bordeaux.fr
Professor Didier Lacombe, CHU Bordeaux, Bordeaux, France, Didier.lacombe@chu-bordeaux.fr