A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype

Pamela Magini, Tommaso Pippucci, I. Chun Tsai, Simona Coppola, Emilia Stellacci, Anna Bartoletti-Stella, Daniela Turchetti, Claudio Graziano, Giovanna Cenacchi, Iria Neri, Duccio Maria Cordelli, Valentina Marchiani, Rosalba Bergamaschi, Giuseppe Gasparre, Giovanni Neri, Laura Mazzanti, Annalisa Patrizi, Emilio Franzoni, Giovanni Romeo, Domenico BordoMarco Tartaglia, Nicholas Katsanis, Marco Seri

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Medicine & Life Sciences