首页> European journal of human genetics : EJHG> The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

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第一作者： David A,Koolen

第一单位： Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

作者： David A,Koolen ^[1] ; Rolph,Pfundt ^[1] ; Katrin,Linda ^[1] ; Gea,Beunders ^[2] ; Hermine E,Veenstra-Knol ^[3] ; Jessie H,Conta ^[4] ; Ana Maria,Fortuna ^[5] ; Gabriele,Gillessen-Kaesbach ^[6] ; Sarah,Dugan ^[7] ; Sara,Halbach ^[8] ; Omar A,Abdul-Rahman ^[9] ; Heather M,Winesett ^[10] ; Wendy K,Chung ^[11] ; Marguerite,Dalton ^[12] ; Petia S,Dimova ^[13] ; Teresa,Mattina ^[14] ; Katrina,Prescott ^[15] ; Hui Z,Zhang ^[16] ; Howard M,Saal ^[17] ; Jayne Y,Hehir-Kwa ^[1] ; Marjolein H,Willemsen ^[1] ; Charlotte W,Ockeloen ^[1] ; Marjolijn C,Jongmans ^[1] ; Nathalie,Van der Aa ^[18] ; Pinella,Failla ^[19] ; Concetta,Barone ^[19] ; Emanuela,Avola ^[19] ; Alice S,Brooks ^[20] ; Sarina G,Kant ^[21] ; Erica H,Gerkes ^[3] ; Helen V,Firth ^[22] ; Katrin,Õunap ^[23] ; Lynne M,Bird ^[24] ; Diane,Masser-Frye ^[24] ; Jennifer R,Friedman ^[24] ; Modupe A,Sokunbi ^[25] ; Abhijit,Dixit ^[26] ; Miranda,Splitt ^[27] ; DDD Study ^[28] ; Mary K,Kukolich ^[29] ; Julie,McGaughran ^[30] ; Bradley P,Coe ^[31] ; Jesús,Flórez ^[1] ; Nael,Nadif Kasri ^[32] ; Han G,Brunner ^[33] ; Elizabeth M,Thompson ^[34] ; Jozef,Gecz ^[19] ; Corrado,Romano ^[35] ; Evan E,Eichler ^[1] ; Bert B A,de Vries

作者单位： Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. ^[1] Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. ^[2] Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. ^[3] Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA. ^[4] Unidade de Genética Médica, Centro de Genética Médica Dr Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal. ^[5] Institut für Humangenetik, University of Luebeck, Luebeck, Germany. ^[6] Genetics Department, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, USA. ^[7] Department of Human Genetics, University of Chicago, Chicago, IL, USA. ^[8] Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA. ^[9] St Luke's Pediatric Associates, Duluth, MN, USA. ^[10] Department of Pediatrics and Medicine, Columbia University, New York, NY, USA. ^[11] Counties Manukau District Health Board, South Auckland, New Zealand. ^[12] Epilepsy Center, St Ivan Rilski University Hospital, Sofia, Bulgaria. ^[13] Department of Pediatrics, Medical Genetics University of Catania, Catania, Italy. ^[14] Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, UK. ^[15] Department of genetics, Yale University School of Medicine, New Haven, CT, USA. ^[16] Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. ^[17] Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. ^[18] Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy. ^[19] Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands. ^[20] Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. ^[21] Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge, UK. ^[22] Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia. ^[23] Departments of Neurosciences and Pediatrics, University of California San Diego, and Divisions of Neurology and Genetics, Rady Children's Hospital San Diego, San Diego, CA, USA. ^[24] Nacogdoches Pediatrics, Nacogdoches, TX, USA. ^[25] Clinical Genetics, Nottingham City Hospital, Nottingham, UK. ^[26] Northern Genetic Service, Institute of Genetic Medicine, Newcastle upon Tyne, UK. ^[27] Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA. ^[28] Genetic Health Queensland, Royal Brisbane and Women's Hospital and School of Medicine, University of Queensland, Brisbane, Queensland, Australia. ^[29] Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. ^[30] Department of Physiology and Pharmacology, University of Cantabria, Cantabria, Spain. ^[31] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.;Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. ^[32] South Australian Clinical Genetics Service, Women's and Children's Hospital; and Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia. ^[33] School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia. ^[34] Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.;Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. ^[35]