This website provides information on patients with mutations in the NSD1 gene, including clinical data, molecular data, management and research options.
Sotos syndrome, caused by mutations in the NSD1 gene, is a multisystem disorder characterized by increased growth (height and /or head circumference), a variable learning disability and a distinctive facial appearance. Not all individuals with a mutation in the NSD1 gene have these features.
This website was created to share and collect information about the clinical spectrum, management options and research projects in order to gather more knowledge and provide better treatment of patients with mutations in the NSD1 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