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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
Authors:Nicola Dennert  Hartmut Engels  Kirsten Cremer  Jessica Becker  Eva Wohlleber  Beate Albrecht  Julia K. Ehret  Hermann‐Josef Lüdecke  Mohnish Suri  Giulia Carignani  Alessandra Renieri  Guido M. Kukuk  Thomas Wieland  Joris Andrieux  Tim M. Strom  Dagmar Wieczorek  Anne Dieux‐Coëslier  Alexander M. Zink
Affiliation:1. Institute of Human Genetics, University of Bonn, Bonn, Germany;2. Correspondence to:;3. Dr. Hartmut Engels, Ph.D., Institute of Human Genetics, University of Bonn, Sigmund‐Freud‐Strasse 25, 53105 Bonn, Germany.;4. E‐mail:;5. Institut für Humangenetik, Universit?tsklinikum Essen, Universit?t Duisburg‐Essen, Essen, Germany;6. Institute of Human Genetics, Medical Faculty, Heinrich‐Heine‐University, Düsseldorf, Germany;7. Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom;8. Medical Genetics Unit, University of Siena, Siena, Italy;9. Department of Radiology, University of Bonn, Bonn, Germany;10. Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany;11. Laboratory of Medical Genetics, H?pital Jeanne de Flandre University Hospital, Lille, France;12. Clinical Genetics, H?pital Jeanne de France University Hospital, Lille, France
Abstract:
Keywords:microdeletion  whole exome sequencing  intellectual disability  SOX2  genotype first
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