학술논문
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
Document Type
Article
Author
Kuechler, A.; Albrecht, B.; Bramswig, N.; Czeschik, J.C.; Lüdecke, H.-J.; Wieczorek, D.; Willemsen, M.H.; van Bokhoven, H.; Kempers, M.; Koolen, D.; de Munnik, S.; Veltman, J.; Vissers, L.; Wissink, W.; Yntema, H.; Kleefstra, T.; Bacino, C.A.; He, W.; Bartholomew, D.W.; Pastore, M.; van den Boogaard, M.J.H.; van Gassen, K.; van Haelst, M.; Monroe, G.; Büttner, C.; Reis, A.; Reuter, M.S.; Cremer, K.; Engels, H.; Zink, A.M.; Graf, E.; Wieland, T.; Strom, T.M.; Hogue, J.S.; Tegay, D.H.; Visser, G.; van Hasselt, P.; Smeets, E.E.J.
Source
In: Human Genetics . (Human Genetics, January 2014, 134(1):97-109)
Subject
Language
English
ISSN
14321203
03406717
03406717