This website provides information on patients with mutations in the KAT8 (lysine acetyltransferase 8) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the KAT8 gene is a multisystem disorder called Li-Ghorgani-Weisz-Hubshman syndrome (LIGOWS) characterized by intellectual disability, seizures, autism and dysmorphisms.
Not all individuals with a mutation in the KAT8 gene have these features.
This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KAT8 gene.
Philippe Campeau, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, firstname.lastname@example.org
Coralie Michaud, MD, University of Montreal, Montreal, Canada, email@example.com