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Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

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第一作者: Alessia,Micalizzi
第一单位: CSS-Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.;Department of Biological and Environmental Sciences, University of Messina, Messina, Italy.
作者单位: CSS-Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.;Department of Biological and Environmental Sciences, University of Messina, Messina, Italy. [1] Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.;Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. [2] CSS-Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. [3] Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. [4] Pediatric Neurology, Children's Hospital, Landshut, Germany. [5] Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Lecco, Italy. [6] Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University of Goettingen, Goettingen, Germany. [7] Section of Pediatric Neurology, Hospital Universitario 12 de Octubre, Department of Medicine, Universidad Complutense, Madrid, Spain. [8] Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy. [9] Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital, RWTH Aachen, Aachen, Germany. [10] Social Pediatic Centrum (SPZ), St Vinzenz Hospital, Dinslaken, Germany. [11] Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland. [12] SCDU Medical Genetics, Hospital Città della Salute e della Scienza di Torino, Turin, Italy. [13] Paediatric Neurology Unit, Catholic University, Rome, Italy. [14] Pediatrics, St Marien and St Anna Hospital, Ludwigshafen, Germany. [15] Molecular Medicine, IRCCS Stella Maris, Pisa, Italy. [16] Division of Pediatric Neurology, Children's Hospital, Klinikum Augsburg, Augsburg, Germany. [17] Clinical Genetic Unit, Department of Women, Mother and Neonates, 'Vittore Buzzi' Children Hospital, Istituti Clinici di Perfezionamento, Milan, Italy. [18] Department of Pediatric Neurology, Ankara Pediatrics, Hematology-Oncology Training and Research Hospital, Ankara, Turkey. [19] Department of Pediatrics, DRK Kliniken Berlin Westend, Berlin, Germany. [20] Division of Pediatric Neurology, University Children's Hospital Heidelberg, Germany. [21] CSS-Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.;Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Salerno, Italy. [22]
DOI 10.1038/ejhg.2016.19
PMID 26932191
发布时间 2025-05-29
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European journal of human genetics : EJHG

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