POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
van Reeuwijk J; Janssen M; van den Elzen C; Beltran-Valero de Bernabé D; Sabatelli P; Merlini L; Boon M; Scheffer H; Brockington M; Muntoni F; Huynen MA; Verrips A; Walsh CA; Barth PG; Brunner HG; van Bokhoven H; Journal Of Medical Genetics, 2005, vol. 42, issue 12, p 907, ISSN 14686244. ISBN 14686244.

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