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

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

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