Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

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第一作者： Andrea,Delle Vedove

第一单位： Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany.

作者： Andrea,Delle Vedove ^[1] ; Markus,Storbeck ^[1] ; Raoul,Heller ^[2] ; Irmgard,Hölker ^[1] ; Malavika,Hebbar ^[3] ; Anju,Shukla ^[3] ; Olafur,Magnusson ^[4] ; Sebahattin,Cirak ^[5] ; Katta M,Girisha ^[3] ; Mary,O'Driscoll ^[6] ; Bart,Loeys ^[7] ; Brunhilde,Wirth ^[8]

作者单位： Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany. ^[1] Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany. ^[2] Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka 576104, India. ^[3] deCODE genetics, 101 Reykjavik, Iceland. ^[4] Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Children's Hospital, University Hospital of Cologne, 50931 Cologne, Germany. ^[5] Birmingham Women's NHS Foundation Trust, Birmingham T15 2TH, UK. ^[6] Antwerp University Hospital, 2650 Edegem, Belgium. ^[7] Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany. Electronic address: brunhilde.wirth@uk-koeln.de. ^[8]