A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
Simon Stritt(University of Würzburg), Andrew Mumford(University of Bristol), Chantal Thys(KU Leuven), Rémi Favier(Inserm), Bernhard Nieswandt(University of Würzburg), Ernest Turro(University of Cambridge), Tadbir K. Bariana(Royal Free London NHS Foundation Trust), Willem H. Ouwehand(NHS Blood and Transplant), Wendy N. Erber(The University of Western Australia), Alan T. Nurden(Hôpital Xavier Arnozan), Myrto Kostadima(National Health Service), Mary Mathias(Ninewells Hospital), Keith Gomez(Royal Free London NHS Foundation Trust), Michele P. Lambert(Children's Hospital of Philadelphia), R. Petersen(Mayo Clinic), Sandrine Marlin, Michael Laffan(Hammersmith Hospital), Rutendo Mapeta(NHS Blood and Transplant), Paquita Nurden(Plateforme Technologique d'Innovation Biomédicale), Sol Schulman(Beth Israel Deaconess Medical Center), Kathleen Stirrups(Queen Mary University of London), Salih Tuna(University of Cambridge), Augusto Rendon(University of Cambridge), Claire Lentaigne(Hammersmith Hospital), Chris Van Geet(KU Leuven), Sjoert B.G. Jansen(National Health Service), Sarah K. Westbury(University of Bristol), Sofia Papadia(University of Edinburgh), Jonathan Stephens(NHS Blood and Transplant), Kathleen Freson(KU Leuven), Anne M. Kelly(National Health Service), John R. Bradley(University of Cambridge), Sofie Ashford(University of Cambridge), Christopher J. Penkett(University of Cambridge), Daniel Greene(University of Cambridge), F. Lucy Raymond(Newcastle University), Carolyn M. Millar(National Health Service), Sylvia Richardson(Hammersmith Hospital), Steve Austin(National Health Service), Tamam Bakchoul(Universitätsmedizin Greifswald), Stephanie Maiwald(National Health Service), Peter Collins(Cardiff University), Ilenia Simeoni(University of Cambridge), David J. Perry(National Health Service), William J. Astle(National Health Service)
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