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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum |
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| Authors: | Alma Kuechler Marjolein H. Willemsen Beate Albrecht Carlos A. Bacino Dennis W. Bartholomew Hans van Bokhoven Marie Jose H. van den Boogaard Nuria Bramswig Christian Büttner Kirsten Cremer Johanna Christina Czeschik Hartmut Engels Koen van Gassen Elisabeth Graf Mieke van Haelst Weimin He Jacob S. Hogue Marlies Kempers David Koolen Glen Monroe Sonja de Munnik Matthew Pastore André Reis Miriam S. Reuter David H. Tegay Joris Veltman Gepke Visser Peter van Hasselt Eric E. J. Smeets Lisenka Vissers Thomas Wieland Willemijn Wissink Helger Yntema Alexander Michael Zink Tim M. Strom Hermann-Josef Lüdecke Tjitske Kleefstra Dagmar Wieczorek |
| Affiliation: | 1. Institut für Humangenetik, Universit?tsklinikum Essen, Universit?t Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany 2. Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands 3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 4. Division of Molecular and Human Genetics, Department of Pediatrics, The Ohio State University/Nationwide Children’s Hospital, Columbus, OH, USA 5. Department of Medical Genetics, Utrecht Medical Centre, Utrecht, The Netherlands 6. Institut für Humangenetik, Friedrich-Alexander-Universit?t Erlangen-Nürnberg, Erlangen, Germany 7. Institute of Human Genetics, University of Bonn, Bonn, Germany 8. Institut für Humangenetik, Helmholtz Zentrum München, Neuherberg, Germany 9. Department of Pediatrics, Madigan Army Medical Center, Tacoma, WA, USA 10. Department of Medicine, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, NY, USA 11. Department of Metabolic Diseases, Wilhelmina Children’s Hospital, Utrecht Medical Centre, Utrecht, The Netherlands 12. Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands |
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