Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Daniel P. S. Osborn(University College London), M. Chiara Manzini(Rutgers, The State University of New Jersey), Heather L. Pond(George Washington University), Hamid Galehdari(Shahid Chamran University of Ahvaz), Jennifer N. Partlow(Broad Institute), Thomas Voit(University College London), Elizabeth A. Sellars(Arkansas Children's Hospital), Robert Hill(Broad Institute), Jeremy Dejardin(St George's, University of London), Laura E. Swan(University of Liverpool), Yalda Jamshidi(St George's, University of London), Neda Mazaheri(Shahid Chamran University of Ahvaz), Rebecca Willaert, Isabella Moroni(Vita-Salute San Raffaele University), Christopher J. Munn(University of Liverpool), Reza Azizi Malamiri(Ahvaz Jundishapur University of Medical Sciences), Khaloob Mushref(George Washington University), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Marina Mora(Fondazione IRCCS Istituto Neurologico Carlo Besta), Gholamreza Shariati(Ahvaz Jundishapur University of Medical Sciences), Francesco J. Conti(University College London), Jaipreet Bharj(St George's, University of London), Maria Barbara Pasanisi(Fondazione IRCCS Istituto Neurologico Carlo Besta), Edmund Cauley(George Washington University)
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