Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
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| Title: | Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. |
|---|---|
| Authors: | Ivanovski I; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Department of Surgical, Medical, Dental, and Morphological Sciences with Interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy., Djuric O; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia., Caraffi SG; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Santodirocco D; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Pollazzon M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Rosato S; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Cordelli DM; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Abdalla E; Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt., Accorsi P; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy., Adam MP; Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Ajmone PF; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Badura-Stronka M; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland., Baldo C; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy., Baldi M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Bayat A; Department of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark., Bigoni S; UOL of Medical Genetics, University Hospital of Ferrara, Ferrara, Italy., Bonvicini F; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Breckpot J; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Cocchi G; Neonatology Unit, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy., Cuturilo G; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia., De Brasi D; Department of Pediatrics, AORN Santobono Pausilipon, Naples, Italy., Devriendt K; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium., Dinulos MB; Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA., Hjortshøj TD; Department of Clinical Genetics, Kennedy Center, Glostrup, Denmark., Epifanio R; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy., Faravelli F; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Fiumara A; Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy., Formisano D; Scientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Giordano L; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy., Grasso M; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy., Grønborg S; Center for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark., Iodice A; Neuropsychiatric Department, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Iughetti L; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Kuburovic V; Department of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia., Kutkowska-Kazmierczak A; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland., Lacombe D; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France., Lo Rizzo C; Medical Genetics, University of Siena, Siena, Italy., Luchetti A; Child Neuropsychiatry Unit, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy., Malbora B; Department of Pediatric Hematology & Oncology, Tepecik Training and Research Hospital, Izmir, Turkey., Mammi I; Medical Genetics Unit, Dolo Hospital, Venice, Italy., Mari F; Medical Genetics, University of Siena, Siena, Italy., Montorsi G; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Faculty of Medicine, University of Modena and Reggio Emilia, Modena, Italy., Moutton S; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France., Møller RS; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Muschke P; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Nielsen JEK; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Denmark., Obersztyn E; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland., Pantaleoni C; Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico 'C. Besta,', Milan, Italy., Pellicciari A; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Pisanti MA; Medical Genetic Unit, AORN Cardarelli, Naples, Italy., Prpic I; Department of Pediatrics-Child Neurology Service, University Hospital Rijeka, Medical Faculty, University of Rijeka, Rijeka, Croatia., Poch-Olive ML; Department of Pediatrics, H. San Pedro, La Rioja, Logrono, Spain., Raviglione F; Child Neuropsychiatry Unit, U.O.N.P.I.A ASST-Rhodense, Rho, Milan, Italy., Renieri A; Medical Genetics, University of Siena, Siena, Italy., Ricci E; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Rivieri F; Genetics Unit, St. Chiara Hospital, Trento, Italy., Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Savasta S; Department of Pediatrics, IRCCS San Matteo, Pavia, Italy., Scarano G; Department of Medical Genetics, Gaetano Rummo Hospital, Benevento, Italy., Schanze I; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Selicorni A; Department of Pediatrics, Hospital S. Gerardo, University of Milano-Bicocca, Monza, Italy.; Department of Pediatrics, ASST Lariana, Como, Italy., Silengo M; Department of Pediatrics, University of Torino, Torino, Italy., Smigiel R; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Spaccini L; Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy., Sorge G; Department of Pediatrics and Medical Sciences, 'Vittorio Emanuele' Hospital, University of Catania, Catania, Italy., Szczaluba K; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Tarani L; Department of Pediatrics, University 'La Sapienza,', Rome, Italy., Tone LG; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Toutain A; Department of Genetics, Tours University Hospital, Tours, France., Trimouille A; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France., Valera ET; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Vergano SS; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Zanotta N; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Zenker M; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Conidi A; Department of Cell Biology, Erasmus University Medical Center, Rotterdam, The Netherlands., Zollino M; Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Rome, Italy., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Garavelli L; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy. livia.garavelli@ausl.re.it. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Sep; Vol. 20 (9), pp. 965-975. Date of Electronic Publication: 2018 Jan 04. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29300384 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ivanovski+I%22">Ivanovski I</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Department of Surgical, Medical, Dental, and Morphological Sciences with Interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Djuric+O%22">Djuric O</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Caraffi+SG%22">Caraffi SG</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Santodirocco+D%22">Santodirocco D</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Pollazzon+M%22">Pollazzon M</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Rosato+S%22">Rosato S</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Cordelli+DM%22">Cordelli DM</searchLink>; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Abdalla+E%22">Abdalla E</searchLink>; Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt.<br /><searchLink fieldCode="AU" term="%22Accorsi+P%22">Accorsi P</searchLink>; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Adam+MP%22">Adam MP</searchLink>; Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Ajmone+PF%22">Ajmone PF</searchLink>; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Badura-Stronka+M%22">Badura-Stronka M</searchLink>; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.<br /><searchLink fieldCode="AU" term="%22Baldo+C%22">Baldo C</searchLink>; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Baldi+M%22">Baldi M</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Bigoni+S%22">Bigoni S</searchLink>; UOL of Medical Genetics, University Hospital of Ferrara, Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22Bonvicini+F%22">Bonvicini F</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Breckpot+J%22">Breckpot J</searchLink>; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Callewaert+B%22">Callewaert B</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Cocchi+G%22">Cocchi G</searchLink>; Neonatology Unit, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Cuturilo+G%22">Cuturilo G</searchLink>; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22De+Brasi+D%22">De Brasi D</searchLink>; Department of Pediatrics, AORN Santobono Pausilipon, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Devriendt+K%22">Devriendt K</searchLink>; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Dinulos+MB%22">Dinulos MB</searchLink>; Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.<br /><searchLink fieldCode="AU" term="%22Hjortshøj+TD%22">Hjortshøj TD</searchLink>; Department of Clinical Genetics, Kennedy Center, Glostrup, Denmark.<br /><searchLink fieldCode="AU" term="%22Epifanio+R%22">Epifanio R</searchLink>; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Faravelli+F%22">Faravelli F</searchLink>; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Fiumara+A%22">Fiumara A</searchLink>; Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy.<br /><searchLink fieldCode="AU" term="%22Formisano+D%22">Formisano D</searchLink>; Scientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Giordano+L%22">Giordano L</searchLink>; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Grasso+M%22">Grasso M</searchLink>; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Grønborg+S%22">Grønborg S</searchLink>; Center for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Iodice+A%22">Iodice A</searchLink>; Neuropsychiatric Department, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Iughetti+L%22">Iughetti L</searchLink>; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Kuburovic+V%22">Kuburovic V</searchLink>; Department of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Kutkowska-Kazmierczak+A%22">Kutkowska-Kazmierczak A</searchLink>; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Lacombe+D%22">Lacombe D</searchLink>; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Lo+Rizzo+C%22">Lo Rizzo C</searchLink>; Medical Genetics, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Luchetti+A%22">Luchetti A</searchLink>; Child Neuropsychiatry Unit, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Malbora+B%22">Malbora B</searchLink>; Department of Pediatric Hematology & Oncology, Tepecik Training and Research Hospital, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Mammi+I%22">Mammi I</searchLink>; Medical Genetics Unit, Dolo Hospital, Venice, Italy.<br /><searchLink fieldCode="AU" term="%22Mari+F%22">Mari F</searchLink>; Medical Genetics, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Montorsi+G%22">Montorsi G</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Faculty of Medicine, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Moutton+S%22">Moutton S</searchLink>; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Muschke+P%22">Muschke P</searchLink>; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Nielsen+JEK%22">Nielsen JEK</searchLink>; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Denmark.<br /><searchLink fieldCode="AU" term="%22Obersztyn+E%22">Obersztyn E</searchLink>; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Pantaleoni+C%22">Pantaleoni C</searchLink>; Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico 'C. Besta,', Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Pellicciari+A%22">Pellicciari A</searchLink>; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Pisanti+MA%22">Pisanti MA</searchLink>; Medical Genetic Unit, AORN Cardarelli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Prpic+I%22">Prpic I</searchLink>; Department of Pediatrics-Child Neurology Service, University Hospital Rijeka, Medical Faculty, University of Rijeka, Rijeka, Croatia.<br /><searchLink fieldCode="AU" term="%22Poch-Olive+ML%22">Poch-Olive ML</searchLink>; Department of Pediatrics, H. San Pedro, La Rioja, Logrono, Spain.<br /><searchLink fieldCode="AU" term="%22Raviglione+F%22">Raviglione F</searchLink>; Child Neuropsychiatry Unit, U.O.N.P.I.A ASST-Rhodense, Rho, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Renieri+A%22">Renieri A</searchLink>; Medical Genetics, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Ricci+E%22">Ricci E</searchLink>; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Rivieri+F%22">Rivieri F</searchLink>; Genetics Unit, St. Chiara Hospital, Trento, Italy.<br /><searchLink fieldCode="AU" term="%22Santen+GW%22">Santen GW</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Savasta+S%22">Savasta S</searchLink>; Department of Pediatrics, IRCCS San Matteo, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Scarano+G%22">Scarano G</searchLink>; Department of Medical Genetics, Gaetano Rummo Hospital, Benevento, Italy.<br /><searchLink fieldCode="AU" term="%22Schanze+I%22">Schanze I</searchLink>; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Selicorni+A%22">Selicorni A</searchLink>; Department of Pediatrics, Hospital S. Gerardo, University of Milano-Bicocca, Monza, Italy.; Department of Pediatrics, ASST Lariana, Como, Italy.<br /><searchLink fieldCode="AU" term="%22Silengo+M%22">Silengo M</searchLink>; Department of Pediatrics, University of Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Smigiel+R%22">Smigiel R</searchLink>; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.<br /><searchLink fieldCode="AU" term="%22Spaccini+L%22">Spaccini L</searchLink>; Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Sorge+G%22">Sorge G</searchLink>; Department of Pediatrics and Medical Sciences, 'Vittorio Emanuele' Hospital, University of Catania, Catania, Italy.<br /><searchLink fieldCode="AU" term="%22Szczaluba+K%22">Szczaluba K</searchLink>; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Tarani+L%22">Tarani L</searchLink>; Department of Pediatrics, University 'La Sapienza,', Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tone+LG%22">Tone LG</searchLink>; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; Department of Genetics, Tours University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Trimouille+A%22">Trimouille A</searchLink>; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Valera+ET%22">Valera ET</searchLink>; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Vergano+SS%22">Vergano SS</searchLink>; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Zanotta+N%22">Zanotta N</searchLink>; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Zenker+M%22">Zenker M</searchLink>; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Conidi+A%22">Conidi A</searchLink>; Department of Cell Biology, Erasmus University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Zollino+M%22">Zollino M</searchLink>; Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Rauch+A%22">Rauch A</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Zweier+C%22">Zweier C</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Garavelli+L%22">Garavelli L</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy. livia.garavelli@ausl.re.it. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2018 Sep; Vol. 20 (9), pp. 965-975. <i>Date of Electronic Publication: </i>2018 Jan 04. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE |
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