title: [De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Muramatsu
mesh_terms: D001343:Autophagy / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D019189:Iron Metabolism Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D019150:Neuroaxonal Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D028044:Phosphate-Binding Proteins
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D028044:Phosphate-Binding Proteins; C578284:WDR45 protein, human; C569007:WIPI2 protein, human