Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
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author: Hans van Bokhoven, Eamonn Sheridan, Hülya Kayserili, Yung-Yao Lin, Christian Gilissen, Danijela Petković Ramadža, Joris A Veltman, Han G. Brunner, Jeroen van Reeuwijk, Rolph Pfundt, Lisenka Vissers, Tony Roscioli, Erik-Jan Kamsteeg, Ellen van Beusekom, Grazia M S Mancini, Michèl A A P Willemsen, Dirk J Lefeber, Margit Schraders
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