Browsing Centre for Genomics and Child Health by Author "Buysse, K"
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Missense mutations in-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause WalkerWarburg syndrome
Buysse, K; Riemersma, M; Powell, G; van Reeuwijk, J; Chitayat, D; Roscioli, T; Kamsteeg, E-J; van den Elzen, C; van Beusekom, E; Blaser, S (2013-05-01) -
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 ...