Browsing Centre for Genomics and Child Health by Subject "Walker-Warburg Syndrome"
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
(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 ...