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Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients
Affiliation:1. Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France;2. Lyon Neuroscience Research Center, GENDEV Team, CNRS UMR 5292, INSERM U1028, UCBL1, Bron, France;3. Université Claude Bernard Lyon 1, France;4. Service de Génétique, Hôpital de la Timone Enfant, APHM, Marseille, France;5. Division of Metabolics, Children''s Hospital of Eastern Ontario, Ottawa, Ontario, Canada;6. Centre Hospitalier de Valence, Service de pédiatrie, Valence, France;1. St.-Petersburg State Pediatric Medical University, St.-Petersburg, 194100, Russia;2. N.N. Petrov Institute of Oncology, St.-Petersburg, 197758, Russia;3. I.I. Mechnikov North-Western Medical University, St.-Petersburg, 191015, Russia;1. Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany;2. Department of Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany;3. Department of Ophthalmology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany;1. Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada;2. Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, H3A 1B1, Canada;3. Department of Clinical Genomics, Mayo Clinic, Rochester, Minesota, USA;4. Metabolomics Expertise Center, Center for Cancer Biology, VIB-KU Leuven, Leuven, Belgium;5. Bioinformatics Platform, Research Institute of the McGill University Health Centre, Montréal, QC, H4A 3J1, Canada;1. Centre de Génétique Humaine, IPG, Gosselies, Belgium;2. Cliniques Universitaires Saint Luc, UCL, Bruxelles, Belgium;3. Neuropathology Unit (Anatomic Pathology Service) and Reference Center for Neuromuscular Pathology, CHU BRUGMANN-HUDERF, Université Libre de Bruxelles, Brussels, Belgium;4. Paediatric Neurology Department, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, ULB, Belgium;5. Centre de Référence Neuromusculaire, Department of Neurology, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium;1. Allergy Immunology Unit, Department of Pediatrics, Advances Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India;2. Pediatric Intensive Care Unit, Mehta Multispecialty Hospital, Chennai, India
Abstract:
Keywords:Pitt hopkins syndrome  Intellectual disability  Next generation sequencing
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