Browsing by Author "Willemsen, MA"

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    • Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. 

      Roscioli, T; Kamsteeg, E-J; Buysse, K; Maystadt, I; van Reeuwijk, J; van den Elzen, C; van Beusekom, E; Riemersma, M; Pfundt, R; Vissers, LELM (2012-05)
      Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we ...