The referring professionals for the MED13L syndrome are Drs. Thomas Smol and Jamal Ghoumid (Lille Hospital).
A paper was presented by Dr. Thomas Smol at the Annual Congress of Medical and Human Genetics of January 2018 in Nantes.
Dr. Ghoumid tells us about the current research project:
"Currently, in our lab, a Master 2 student is working on cellular models of pathology, based on mutations identified in patients, this is a recent project and we are still in a very preliminary stage. but that in the long run will, I hope, improve the lives of patients and their families. "