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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress,Arthrogryposis, and Scoliosis
Authors:Andrea Delle Vedove  Markus Storbeck  Raoul Heller  Irmgard Hölker  Malavika Hebbar  Anju Shukla  Olafur Magnusson  Sebahattin Cirak  Katta M Girisha  Mary O’Driscoll  Bart Loeys  Brunhilde Wirth
Institution:1 Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany;2 Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany;3 Institute for Genetics, University of Cologne, 50674 Cologne, Germany;4 Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka 576104, India;5 deCODE genetics, 101 Reykjavik, Iceland;6 Children’s Hospital, University Hospital of Cologne, 50931 Cologne, Germany;7 Birmingham Women’s NHS Foundation Trust, Birmingham T15 2TH, UK;8 Antwerp University Hospital, 2650 Edegem, Belgium
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