Journal Article
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
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
Human Genetics · Vol. 134, Issue 1 · pp. 97-109 · 2015