Shared mechanisms causing Mowat-Wilson syndrome and Pitt-Hopkins syndrome: analysis of Sip1 and Tcf4 function in brain development, from patient to mouse to patient. KU Leuven
During brain development enormous numbers of neurons are born in the embryo, which have to position themselves correctly and form functional connections with each other. However, mutations or environmental factors can affect the assembly of this network and cause neurodevelopmental disorders, such as autism and syndromes like Tourettes, Mowat-Wilson (MWS) and Pitt-Hopkins (PTHS). MWS and PTHS patients have many symptoms in common such as ...