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

T. Roscioli, E.J. Kamsteeg, K. Buysse, I. Maystadt, J. van Reeuwijk, C. van den Elzen, E. van Beusekom, M. Riemersma, R. Pfundt, L.E.L.M. Vissers, M. Schraders, U. Altunoglu, M.F. Buckley, H.G. Brunner, B. Grisart, H.Q. Zhou, J.A. Veltman, C. Gilissen, G.M.S. Mancini, P. DelreeM.A. Willemsen, D.P. Ramadza, D. Chitayat, C. Bennett, E. Sheridan, E.A.J. Peeters, M.B. Tan-Sindhunata, C.E. de Die-Smulders, K. Devriendt, H. Kayserili, O.A. El-Hashash, D.L. Stemple, D.J. Lefeber, Y.Y. Lin, H. van Bokhoven

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)581-585
JournalNature Genetics
Volume44
Issue number5
DOIs
Publication statusPublished - 2012

Cite this

Roscioli, T., Kamsteeg, E. J., Buysse, K., Maystadt, I., van Reeuwijk, J., van den Elzen, C., ... van Bokhoven, H. (2012). Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nature Genetics, 44(5), 581-585. https://doi.org/10.1038/ng.2253