首页> European journal of human genetics : EJHG> A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

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第一作者： Shereen G,Ghosh

第一单位： Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.;Rady Children's Institute for Genomic Medicine, San Diego, CA, 92025, USA.

作者： Shereen G,Ghosh ^[1] ; Marcello,Scala ^[2] ; Christian,Beetz ^[3] ; Guy,Helman ^[4] ; Valentina,Stanley ^[1] ; Xiaoxu,Yang ^[1] ; Martin W,Breuss ^[1] ; Neda,Mazaheri ^[5] ; Laila,Selim ^[6] ; Fatemeh,Hadipour ^[7] ; Lynn,Pais ^[8] ; Chloe A,Stutterd ^[9] ; Vasiliki,Karageorgou ^[3] ; Amber,Begtrup ^[10] ; Amy,Crunk ^[10] ; Jane,Juusola ^[10] ; Rebecca,Willaert ^[10] ; Leigh A,Flore ^[11] ; Kelly,Kennelly ^[11] ; Christopher,Spencer ^[12] ; Martha,Brown ^[12] ; Pamela,Trapane ^[12] ; Anna C E,Hurst ^[13] ; S,Lane Rutledge ^[13] ; Dana H,Goodloe ^[13] ; Marie T,McDonald ^[14] ; Vandana,Shashi ^[14] ; Kelly,Schoch ^[14] ; Undiagnosed Diseases Network ^[15] ; Hoda,Tomoum ^[15] ; Raghda,Zaitoun ^[7] ; Zahra,Hadipour ^[5] ; Hamid,Galehdari ^[16] ; Alistair T,Pagnamenta ^[17] ; Majid,Mojarrad ^[18] ; Alireza,Sedaghat ^[19] ; Patrícia,Dias ^[20] ; Sofia,Quintas ^[21] ; Atiyeh,Eslahi ^[22] ; Gholamreza,Shariati ^[3] ; Peter,Bauer ^[4] ; Cas,Simons ^[23] ; Henry,Houlden ^[24] ; Mahmoud Y,Issa ^[24] ; Maha S,Zaki ^[25] ; Reza,Maroofian ^[26] ; Joseph G,Gleeson

作者单位： Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.;Rady Children's Institute for Genomic Medicine, San Diego, CA, 92025, USA. ^[1] Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.;Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK. ^[2] CENTOGENE AG, Rostock, Germany. ^[3] Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.;Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia. ^[4] Department of Genetics, Shahid Chamran University of Ahvaz, Ahvaz, Iran. ^[5] Division of Neurology and Metabolism, Kasr Al Ainy School of Medicine, Cairo University Children Hospital, Cairo, Egypt. ^[6] Department of Medical Genetics, Atieh Hospital, Tehran, Iran. ^[7] Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, 02142, USA. ^[8] Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.;Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.;Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. ^[9] GeneDx, Gaithersburg, MD, USA. ^[10] Division of Genetic, Genomic & Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI, USA. ^[11] Division of Pediatric Genetics, Department of Pediatrics, UF College of Medicine, Jacksonville, FL, 32207, USA. ^[12] Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA. ^[13] Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. ^[14] Department of Pediatrics, Ain Shams University, Cairo, Egypt. ^[15] NIHR Oxford BRC, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK. ^[16] Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.;Genetic Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.;Genetic Center of Khorasan Razavi, Mashhad, Iran. ^[17] Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. ^[18] Medical Genetics Service, Paediatrics Department, Centro Hospitalar Universitário Lisboa Norte, Hospital de Santa Maria, Lisbon, Portugal. ^[19] Neuropaediatrics Unit, Paediatrics Department, Centro Hospitalar Universitário Lisboa Norte, Hospital de Santa Maria, Lisbon, Portugal. ^[20] Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.;Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. ^[21] Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. ^[22] Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK. ^[23] Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. ^[24] Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK. r.maroofian@ucl.ac.uk. ^[25] Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA. jogleeson@ucsd.edu.;Rady Children's Institute for Genomic Medicine, San Diego, CA, 92025, USA. jogleeson@ucsd.edu. ^[26]