Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.

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Title: Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Authors: Orsini A; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Santangelo A; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Bravin F; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Bonuccelli A; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Peroni D; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy., Battini R; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.; Stella Maris Foundation, IRCCS, 56126 Calambrone, Italy., Foiadelli T; Pediatric Clinic, Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, IRCCS Policlinico San Matteo Foundation-University of Pavia, 27100 Pavia, Italy., Bertini V; Cytogenetics Unit, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Valetto A; Cytogenetics Unit, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Iacomino M; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Nigro V; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania, Luigi Vanvitelli, 81100 Caserta, Italy., Torella AL; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania, Luigi Vanvitelli, 81100 Caserta, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Capra V; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Vari MS; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Fetta A; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy., Di Pisa V; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy., Montanari F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Epifanio R; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, Italy., Bonanni P; Epilepsy and Clinical Neurophysiology Unit, IRCCS E. Medea Scientific Institute, 31015 Conegliano, Italy., Giorda R; Molecular Biology Laboratory, IRCCS E. Medea Scientific Institute, 23842 Bosisio Parini, Italy., Operto F; Child Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano, Italy., Pastorino G; Child Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano, Italy., Sarigecili E; Department of Pediatric Neurology, Gazi University Faculty of Medicine, 06500 Ankara, Turkey., Sardaroglu E; Department of Pediatric Neurology, Gazi University Faculty of Medicine, 06500 Ankara, Turkey., Okuyaz C; Department of Pediatric Neurology, Mersin University, Mersin 33110, Turkey., Bozdogan S; Department of Medical Genetics, Balcali Clinics and Hospital, Faculty of Medicine, Cukurova University, Adana 01330, Turkey., Musante L; Medical Genetics Unit, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy., Faletra F; Medical Genetics Unit, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy., Zanus C; Child Neuropsychiatry Unit, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy., Ferretti A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Vigevano F; Neuroscience Department, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EPICARE, 00165 Rome, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Cordelli DM; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy.
Source: Genes [Genes (Basel)] 2022 Jan 30; Vol. 13 (2). Date of Electronic Publication: 2022 Jan 30.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2073-4425
DOI:10.3390/genes13020276