Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Manickavasagam Amudhavalli, Siddarth Banka, Frederique Sloan Bena, Bruria Ben‐Zeev, Vincent Robert Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, , Lisenka E.L.M. Vissers
The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.
The American Journal of Human Genetics · Jan 28, 2021Peer-reviewedGenetics