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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

✍ Scribed by Aligianis, Irene A; Johnson, Colin A; Gissen, Paul; Chen, Dongrong; Hampshire, Daniel; Hoffmann, Katrin; Maina, Esther N; Morgan, Neil V; Tee, Louise; Morton, Jenny


Book ID
109919120
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
259 KB
Volume
37
Category
Article
ISSN
1061-4036

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Walker-Warburg syndrome (WWS) is a genetically heterogeneous autosomal recessive disease characterized by congenital muscular dystrophy, cobblestone lissencephaly, and ocular malformations. Mutations in six genes involved in the glycosylation of Ξ±-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKRP and