This website provides information on patients with mutations in the EZH2 gene, including clinical data, molecular data, management and research options.
Weaver syndrome, caused by mutations in the EZH2 gene, is a multisystem disorder characterized by increased growth (predominantly height but sometimes in association with macrocephaly), a variable learning disability and a distinctive facial appearance. Not all individuals with a mutation in the EZH2 gene 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 EZH2 gene.
Kate Tatton-Brown, BM BCh, MD, St George's University Hospitals NHS Foundation Trust and Institute of Cancer Research City, country: London, UK, firstname.lastname@example.org