Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan

Tony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, Isabelle Maystadt, Jeroen van Reeuwijk, Christa van den Elzen, Ellen van Beusekom, Moniek Riemersma, Rolph Pfundt, Lisenka E. L. M. Vissers, Margit Schraders, Umut Altunoglu, Michael F. Buckley, Han G. Brunner, Bernard Grisart, Huiqing Zhou, Joris A. Veltman, Christian Gilissen, Grazia M. S. Mancini, Paul DelreeMichel A. Willemsen, Danijela Petkovic Ramadza, David Chitayat, Christopher Bennett, Eamonn Sheridan, Els A. J. Peeters, Gita M. B. Tan-Sindhunata, Christine E. de Die-Smulders, Koenraad Devriendt, Hulya Kayserili, Osama Abd El-Fattah El-Hashash, Derek L. Stemple, Dirk J. Lefeber, Yung-Yao Lin, Hans van Bokhoven

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)581-+
JournalNature Genetics
Volume44
Issue number5
DOIs
Publication statusPublished - May 2012

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