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Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion
Authors:Francesca Novara  Franco Stanzial  Elena Rossi  Francesco Benedicenti  Francesca Inzana  Eleonora Di Gregorio  Alfredo Brusco  Jesper Graakjaer  Christina Fagerberg  Elga Belligni  Margherita Silengo  Orsetta Zuffardi  Roberto Ciccone
Affiliation:1. Department of Molecular Medicine, University of Pavia, Pavia, Italy;2. Department of Pediatrics, Genetic Counselling Service, Regional Hospital of Bolzano, Bolzano, Italy;3. Department of Medical Sciences, University of Torino, Torino, Italy;4. S.C.D.U. Medical Genetics, Città della Salute e della Scienza, Torino, Italy;5. Clinical Genetics Department, Vejle Hospital, Vejle, Denmark;6. Clinical Genetics Department, Odense University Hospital, Odense, Denmark;7. Department of Pediatrics, University of Turin, Turin, Italy;8. Center for Genetic and Therapeutic Approaches, C. Mondino National Neurological Institute, Pavia, Italy
Abstract:
Keywords:NSD1  Sotos syndrome  array‐CGH
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