ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T; Lee H; Lommel M; Yoshida-Moriguchi T; de Bernabe DB; Venzke D; Cirak S; Schachter H; Vajsar J; Voit T; Muntoni F; Loder AS; Dobyns WB; Winder TL; Strahl S; Mathews KD; Nelson SF; Moore SA; Campbell KP; Nature Genetics, 2012, vol. 44, issue 5, p 575, ISSN 15461718. ISBN 15461718.

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