Hoffmann

There are 1 included publications by Hoffmann :

TitleDateViewsBrief Description
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy 2016 Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well ...