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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein,Lead to Cobblestone Lissencephaly
Authors:Julie Jerber  Maha S Zaki  Jumana Y Al-Aama  Rasim Ozgur Rosti  Tawfeg Ben-Omran  Esra Dikoglu  Jennifer L Silhavy  Caner Caglar  Damir Musaev  Beate Albrecht  Kevin P Campbell  Tobias Willer  Mariam Almuriekhi  Ahmet Okay Çağlayan  Jiri Vajsar  Kaya Bilgüvar  Gonul Ogur  Rami Abou Jamra  Murat Günel  Joseph G Gleeson
Institution:1 Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA;2 Howard Hughes Medical Institute, Rady Children’s Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA;3 Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt;4 Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah 21453, Saudi Arabia;5 Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah 21453, Saudi Arabia;6 Clinical and Metabolic Genetics Section, Department of Pediatrics, Hamad Medical Corporation, PO Box 3050, Doha, Qatar;7 Weill Cornell Medical College, Qatar, Education City, PO Box 24144, Doha, Qatar;8 Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany;9 Howard Hughes Medical Institute, Departments of Neurology, Internal Medicine, and Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242-1101, USA;10 Department of Medical Genetics, School of Medicine, Istanbul Bilim University, Istanbul 34394, Turkey;11 Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada;12 Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, School of Medicine, Yale University, New Haven, CT 06510, USA;13 Department of Genetics, School of Medicine, Ondokuz Mayis University, 55000 Samsun, Turkey;14 Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Philipp-Rosenthal-Str. 55, 04103 Leipzig, Germany;15 Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany
Abstract:
Keywords:TMTC3  cobblestone lissencephaly  alpha-dystroglycan  endoplasmic reticulum
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