Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

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作者： Sérgio B,Sousa ^[1] ; Dagan,Jenkins ^[2] ; Estelle,Chanudet ^[3] ; Guergana,Tasseva ^[4] ; Miho,Ishida ^[5] ; Glenn,Anderson ^[6] ; James,Docker ^[7] ; Mina,Ryten ^[8] ; Joaquim,Sa ^[9] ; Jorge M,Saraiva ^[10] ; Angela,Barnicoat ^[11] ; Richard,Scott ^[11] ; Alistair,Calder ^[12] ; Duangrurdee,Wattanasirichaigoon ^[13] ; Krystyna,Chrzanowska ^[14] ; Martina,Simandlová ^[15] ; Lionel,Van Maldergem ^[16] ; Philip,Stanier ^[7] ; Philip L,Beales ^[17] ; Jean E,Vance ^[18] ; Gudrun E,Moore ^[5]

作者单位： 1] Clinical and Molecular Genetics Unit, University College London (UCL) Institute of Child Health, London, UK. [2] Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal. ^[1] 1] Molecular Medicine Unit, UCL Institute of Child Health, London, UK. [2]. ^[2] 1] Centre for Translational Genomics-GOSgene, UCL Institute of Child Health, London, UK. [2]. ^[3] 1] Group on the Molecular and Cell Biology of Lipids, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada. [2]. ^[4] Clinical and Molecular Genetics Unit, University College London (UCL) Institute of Child Health, London, UK. ^[5] Histopathology Department, Great Ormond Street Hospital for Children, London, UK. ^[6] Neural Development Unit, UCL Institute of Child Health, London, UK. ^[7] 1] Reta Lila Weston Institute, UCL Institute of Neurology, London, UK. [2] Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK. ^[8] Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal. ^[9] 1] Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal. [2] University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal. ^[10] Clinical Genetics Department, Great Ormond Street Hospital, London, UK. ^[11] Radiology Department, Great Ormond Street Hospital, London, UK. ^[12] Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. ^[13] Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland. ^[14] Department of Biology and Medical Genetics, University Hospital Motol and Second Faculty of Medicine, Prague, Czech Republic. ^[15] 1] Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France. [2] Cutis Laxa Study Group, University of Franche-Comté, Besancon, France. ^[16] 1] Molecular Medicine Unit, UCL Institute of Child Health, London, UK. [2] Centre for Translational Genomics-GOSgene, UCL Institute of Child Health, London, UK. ^[17] Group on the Molecular and Cell Biology of Lipids, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada. ^[18]