首页> International journal of molecular sciences> Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability.

Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability.

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第一作者： Martin,Grosse

第一单位： Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany.

作者： Martin,Grosse ^[1] ; Alma,Kuechler ^[1] ; Tabib,Dabir ^[2] ; Stephanie,Spranger ^[3] ; Stefanie,Beck-Wödl ^[4] ; Miriam,Bertrand ^[4] ; Tobias B,Haack ^[4] ; Corinna,Grasemann ^[5] ; Eva,Manka ^[6] ; Christel,Depienne ^[1] ; Frank J,Kaiser ^[7]

作者单位： Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany. ^[1] Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK. ^[2] Limbach Genetics, 28209 Bremen, Germany. ^[3] Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany. ^[4] Department of Pediatrics, Faculty of Medicine, Ruhr University of Bochum, 44791 Bochum, Germany. ^[5] Center for Rare Disease Essen (Essener Zentrum für Seltene Erkrankungen-EZSE), Universitätsmedizin Essen, 45147 Essen, Germany. ^[6] Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany.;Center for Rare Disease Essen (Essener Zentrum für Seltene Erkrankungen-EZSE), Universitätsmedizin Essen, 45147 Essen, Germany. ^[7]

关键词 SOX4 high mobility group (HMG)intellectual disability neurodevelopmental delay