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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

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第一作者: Alessandra,Rossi
第一单位: Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.;Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy.
作者单位: Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.;Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy. [1] Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands. [2] Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. [3] Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Centre Hospitalier Universitaire Dijon, Dijon, France.;Genetics of Developmental Disorders Team, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD, Dijon, France. [4] Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany. [5] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.;Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. [6] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. [7] Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. [8] Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA. [9] Rikshospitalet, Oslo University Hospital, Oslo, Norway. [10] Department of Translational Medicine, Federico II University, Naples, Italy.;Telethon Institute of Genetics and Medicine, Naples, Italy. [11] Department of Translational Medicine, Federico II University, Naples, Italy.;Telethon Institute of Genetics and Medicine, Naples, Italy.;Scuola Superiore Meridionale, School for Advanced Studies, Naples, Italy. [12] Department of Medical Genetics, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey. [13] Department of Pediatric Neurology, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey. [14] Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark. [15] All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK. [16] Children's Health Ireland at Crumlin, Dublin 12, Ireland. [17] Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. [18] Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. [19] Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.;Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark. [20] Department of Paediatrics, Copenhagen University Hospital, Hvidovre, Denmark. [21] Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA. [22] Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK. [23] Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol, UK. [24] NSW Genetics of Learning Disability (GOLD) Service, University of Newcastle, New South Wales, Australia. [25] Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. [26] Clinic of Radiology, University of Health Sciences Turkey, Haseki Training and Research Hospital, Istanbul, Turkey. [27] Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.;Department of Regional Health Research, University of Southern Denmark, Odense, Denmark. [28] Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.;Institute of Clinical Medicine, Copenhagen University, Copenhagen, Denmark. [29] Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.;Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.;Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark. [30]
DOI 10.1111/cge.14353
PMID 37165752
发布时间 2024-09-21
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