Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
van Reeuwijk J; Grewal PK; Salih MA; Beltrán-Valero de Bernabé D; McLaughlan JM; Michielse CB; Herrmann R; Hewitt JE; Steinbrecher A; Seidahmed MZ; Shaheed MM; Abomelha A; Brunner HG; van Bokhoven H; Voit T; Human Genetics, 2007, vol. 121, issue 6, p 685, ISSN 03406717. ISBN 03406717.

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