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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

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

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2015-01-01
Publication Year2015
Volume134
Issue1
Pages97-109
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-014-1498-1

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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