Study aims to understand molecular origins of CTNNB1 neurodevelopmental syndrome

https://www.news-medical.net/news/20260227/Study-aims-to-understand-molecular-origins-of-CTNNB1-neurodevelopmental-syndrome.aspx On the occasion of Rare Disease Day, the Biofisika Institute (CSIC, EHU) presents the progress of a project aimed at understanding the molecular origin of CTNNB1 neurodevelopmental syndrome, a rare disease caused by mutations in the beta-catenin protein. Although fewer than 50 cases of this pathology have been diagnosed in Spain, rare diseases affect a total of nearly three million people.