Khalid Al Thihli

There are 1 included publications by Khalid Al Thihli :

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 ...