A new publication produced by some of the most respected geneticists in the world including Dr. Ghayda Mirzaa, Dr. Wendy Chung and Dr. Veerle Janssens from our very own research team provides new insight into Jordan’s Syndrome.
The study documents 76 cases of Jordan’s Syndrome and provides new details into the genetic mutation.
The publication details a significantly expanded series of individuals with PPP2R5D variants enabling the experts to better characterize the association of this gene with neurodevelopmental disorders, neurobehavioral issues and other notable clinical features, as well as further our understanding of the molecular function and biochemical properties of causal PPP2R5D variants.
The clinical, molecular and functional data from this study could have important consequences for clinical evaluations and aid in the future treatment for affected individuals.
Read the full publication here.
Listen to or watch our new podcast as Dr. Mirzaa and Carole Bakhos take a deep dive into the new publication.