Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Titel:
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Auteur:
Osborn, Daniel P.S. Pond, Heather L. Mazaheri, Neda Dejardin, Jeremy Munn, Christopher J. Mushref, Khaloob Cauley, Edmund S. Moroni, Isabella Pasanisi, Maria Barbara Sellars, Elizabeth A. Hill, R. Sean Partlow, Jennifer N. Willaert, Rebecca K. Bharj, Jaipreet Malamiri, Reza Azizi Galehdari, Hamid Shariati, Gholamreza Maroofian, Reza Mora, Marina Swan, Laura E. Voit, Thomas Conti, Francesco J. Jamshidi, Yalda Manzini, M. Chiara