Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé(Radboud University Nijmegen), Sophie Currier(Hadassah Medical Center), Alice Steinbrecher(Essen University Hospital), Jacopo Celli(Radboud University Nijmegen), Ellen van Beusekom(Radboud University Nijmegen), Bert van der Zwaag(Radboud University Nijmegen), Hülya Kayserili(Istanbul University), Luciano Merlini(Istituto Ortopedico Rizzoli), David Chitayat(University of Toronto), William B. Dobyns(University of Chicago), Bru Cormand(Universitat de Barcelona), Ana-Elina Lehesjoki(University of Helsinki), Jesús Cruces(Universidad Autónoma de Madrid), Thomas Voït(Essen University Hospital), Christopher A. Walsh(Hadassah Medical Center), Hans van Bokhoven(Radboud University Nijmegen), Han G. Brunner(Radboud University Nijmegen)
The American Journal of Human Genetics
November 1, 2002
Cited by 687Open Access
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