This website provides information on patients with mutations in the Ubiquitin protein ligase E3 component n-recognin 7 (UBR7) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the UBR7 gene is called Li-Campeau syndrome (LICAS) and is a multisystem disorder characterized by global developmental delay, intellectual disability, epilepsy, dysmorphic facial features, hypothyroidism, and anomalies of the cardiac and genital systems. Not all individuals with a mutation in the UBR7 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 UBR7 gene.
Philippe Campeau, MD, Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, Canada, firstname.lastname@example.org
Coralie Michaud, MD, University of Montreal, Montreal, Canada, email@example.com
Éliane Beauregard-Lacroix, MD, Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, Canada, firstname.lastname@example.org