This website provides information on patients with mutations in the RNA, U4, SMALL NUCLEAR, AT-AC FORM (RNU4ATAC) gene, including clinical data, molecular data, management and research options.
The syndromes caused by mutations in the RNU4ATAC gene are Lowry-Wood syndrome (LWS), Microcephalic osteodysplastic primordial dwarfism, type I (MOPD1) and Roifman syndrome (RS). They are multisystem disorders characterized by skeletal and neurological anomalies. Not all individuals with a mutation in the RNU4ATAC 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 RNU4ATAC 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