De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

著者: Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier, Koenraad Devriendt, Marta Amorim, Nicole Revençu, Alexa Kidd, Mafalda Barbosa, Anne Turner, Janine Smith, Christina Oley, Alex Henderson, Ian Hayes, Elizabeth M. Thompson, Han G. Brunner, Bert B.A. de Vries, Joris A. Veltman - Nature Genetics 2010 被引用: 507