Welcome
This website provides information on patients with mutations in the RAI1 gene, including clinical data, molecular data, management and research options.
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 RAI1 gene.
Choose page:
- RAI1 Smith-Magenis Syndrome
- RAI1 Potocki-Lupski Syndrome
Clinicals who identify a patient with a mutation in RAI1 are invited to submit clinical and molecular information to the database.
Sarah H Elsea, PhD, FACMG, Baylor College of Medicine, Houston, Texas, USA, elsea@bcm.edu
Theresa Wilson, MS, RD, Rare Disease Research Coordinator, Baylor College of Medicine, Houston, Texas, USA, tawilson@bcm.edu