Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
INPP5K基因突变导致一种先天性肌营养不良症,该病与马里内斯科-舍格伦综合征和肌营养不良蛋白病重叠。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.01.019
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