• Media type: E-Article
  • Title: De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
  • Contributor: Kuechler, Alma; Willemsen, Marjolein H.; Albrecht, Beate; Bacino, Carlos A.; Bartholomew, Dennis W.; van Bokhoven, Hans; van den Boogaard, Marie Jose H.; Bramswig, Nuria; Büttner, Christian; Cremer, Kirsten; Czeschik, Johanna Christina; Engels, Hartmut; van Gassen, Koen; Graf, Elisabeth; van Haelst, Mieke; He, Weimin; Hogue, Jacob S.; Kempers, Marlies; Koolen, David; Monroe, Glen; de Munnik, Sonja; Pastore, Matthew; Reis, André; Reuter, Miriam S.; [...]
  • Published: Springer Science and Business Media LLC, 2015
  • Published in: Human Genetics, 134 (2015) 1, Seite 97-109
  • Language: English
  • DOI: 10.1007/s00439-014-1498-1
  • ISSN: 0340-6717; 1432-1203
  • Origination:
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