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A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype
Institution:1. Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N. San Pio, Benevento, BN, Italy;2. Translational Cytogenomics Research Unit, Bambino Gesù Children''s Hospital, IRCCS, Rome, Italy;3. Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario \"A. Gemelli\" IRCCS, Roma, Italy;1. Paediatric Medicine, KK Women''s and Children''s Hospital, Singapore;2. Dermatology Service, KK Women''s and Children''s Hospital, Singapore;3. SingHealth Duke-NUS Paediatric Academic Medicine Programme, Singapore;4. Research Laboratory, KK Women''s and Children''s Hospital, Singapore;5. Clinical Translational Research, Singapore General Hospital, Singapore;3. Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy;4. Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Naples, Italy;6. Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy;7. Department of Pediatrics, ASST Lariana Sant''Anna Hospital, San Fermo Della Battaglia, Como, Italy;8. Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy;9. Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy;10. Fondazione MBBM, Monza, Italy;11. Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Rome, Italy;12. Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience, Italy;13. Department, A Meyer Children''s Hospital, University of Florence, Florence, Italy;14. Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy;15. Oasi Research Institute - IRCCS, Troina, Italy;p. Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children''s Hospital, Bari, Italy;q. Department of Pediatrics, AORN Santobono Pausilipon, Naples, Italy;1. Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;2. Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;3. Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy;4. Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Naples, Italy;5. Neuroradiology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;1. Aix Marseille Univ, INSERM, MMG, Marseille, France;2. Service de Pédiatrie Multidisciplinaire, Hôpital de La Timone Enfants, APHM, Marseille, France;3. Service de Pneumologie Pédiatrique, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France;4. CRB TAC (CRB AP-HM TAC), [BIORESOURCES], Marseille, France;5. Service D’Anesthésie Réanimation Pédiatrique, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France;6. Service D’Urgences Pédiatriques, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France;7. Service de Pédiatrie Spécialisée & Médecine Infantile, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France;8. Service de Médecine Légale, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France;9. Service de Génétique Médicale, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France;10. Laboratoire D''Hématologie Biologique, Assistance Publique des Hôpitaux de Marseille, Timone Enfant, Marseille, France;11. Laboratoire D''Anatomie Pathologique, Hôpital de La Timone Enfants, APHM, Marseille, France;12. U1068-CRCM, Aix Marseille Univ, APHM, Hôpital Nord, Service D''anatomo-pathologie, Marseille, France;1. Hospices Civils de Lyon, Service de Génétique - Centre de Référence Anomalies du Développement, Bron, France;2. Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France;3. Hospices Civils de Lyon, Service de Radiologie, Bron, France;4. Hospices Civils de Lyon, Service de Neuropédiatrie, Bron, France;5. Hospices Civils de Lyon, Service de médecine physique et réadaptation pédiatrique, Bron, France;6. Hospices Civils de Lyon, Service de Chirurgie Pédiatrique, Bron, France;7. Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France
Abstract:
Keywords:ZFHX4  8q21  11 microdeletion syndrome  Intellectual disability  Autism  Clinical exome sequencing
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