This website provides information on patients with mutations in the TUBB2A gene, including clinical data, molecular data, management and research options.
Mutations in the TUBB2A gene are associated with a growing spectrum of multisystem disorders characterized by a heterogenous set of features including:
• Mild to severe developmental delay/intellectual disability
• Brain imaging ranging from a normal cerebral cortex to severe diffuse dysgyria
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 TUBB2A gene.
Stefanie Brock, MD, Department of Pathology, Universitair Ziekenhuis Brussel, Brussels, Belgium, Stefanie.firstname.lastname@example.org
Anna Jansen, PhD, Pediatric Neurology Unit, Antwerp University Hospital, Antwerp, Belgium, Anna.Jansen@uza.be