Call for patients at the Institute of Medical Genetics, University of Zurich:
After the initial two publications, Prof. Anita Rauch’s group continues to collect data from patients with CYFIP2 variants.
The goals of this study are
• to learn more about the symptoms of patients with pathogenic CYFIP2 variants and the natural disease course
• to assemble data about patient’s response to treatments in order to provide treatment recommendations in the future
• to further elucidate the molecular spectrum and genotype-phenotype correlation
• to evaluate pathogenicity of loss-of-function variants in CYFIP2
To enroll your patient please contact anais.begemann@medgen.uzh.ch