De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen(Radboud University Nijmegen), Bregje W.M. van Bon(Radboud University Nijmegen), Christian Gilissen(Radboud University Medical Center), Peer Arts(Radboud University Medical Center), Bart van Lier(Radboud University Medical Center), Marloes Steehouwer(Radboud University Nijmegen), Petra de Vries(Radboud University Medical Center), Rick de Reuver(Radboud University Nijmegen), Nienke Wieskamp(Radboud University Nijmegen), Geert Mortier(Antwerp University Hospital), Koenraad Devriendt(KU Leuven), Marta Amorim, Nicole Revençu(Cliniques Universitaires Saint-Luc), Alexa Kidd(Canterbury Health Laboratories), Mafalda Barbosa, Anne Turner(Sydney Children's Hospital), Janine Smith(Children's Hospital at Westmead), Christina Oley(Birmingham Women's Hospital), Alex Henderson(Newcastle upon Tyne Hospitals NHS Foundation Trust), Ian Hayes, Elizabeth M. Thompson(Women's and Children's Hospital), Han G. Brunner(Radboud University Nijmegen), Bert B.A. de Vries(Radboud University Nijmegen), Joris A. Veltman(Radboud University Nijmegen)
Nature Genetics
May 2, 2010
Cited by 507

Abstract


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