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Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.

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第一作者: Lisa,Pavinato
第一单位: Department of Medical Sciences, University of Turin, Turin, Italy; Institute of Oncology Research (IOR), Bellinzona, Switzerland; Università della Svizzera Italiana, Lugano, Switzerland.
作者单位: Department of Medical Sciences, University of Turin, Turin, Italy; Institute of Oncology Research (IOR), Bellinzona, Switzerland; Università della Svizzera Italiana, Lugano, Switzerland. [1] Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy. [2] Department of Neuroscience, University of Turin, Turin, Italy. [3] William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom. [4] Department of Biosciences, University of the Studies of Milan, Milan, Italy; Institute of Biophysics, Consiglio Nazionale delle Ricerche (CNR), Milan, Italy. [5] Department of Drug Science and Technology, University of Turin, Turin, Italy. [6] Department of Pediatrics, Regina Margherita Children Hospital, Turin, Italy. [7] HudsonAlpha Institute for Biotechnology, Huntsville, AL. [8] Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom; Chalfont Centre for Epilepsy Bucks, Chalfont St Peter, United Kingdom. [9] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. [10] Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan. [11] University College London, UCL Queen Square Institute of Neurology, London, United Kingdom. [12] Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy. [13] Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy. [14] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. [15] Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY. [16] Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY. [17] Department of Clinical and Biological Sciences, University of Turin, Orbassano, TO, Italy. [18] Department of Medical Sciences, University of Turin, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy. Electronic address: alfredo.brusco@unito.it. [19]
DOI 10.1016/j.gim.2023.100922
PMID 37403762
发布时间 2023-12-13
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Genetics in medicine : official journal of the American College of Medical Genetics

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