title: WDR45 mutations define a novel disease entity--static encephalopathy of childhood with neurodegeneration in adulthood.
authors: The Canadian Pharmacogenomic Network for Drug Safety (CPNDS), Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z4H4, Canada. folefac@cmmt.ubc.ca
authors: F
authors: F
authors: Aminkeng
mesh_terms: D001343:Autophagy; D002352:Carrier Proteins / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D009154:Mutation / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000209:etiology*; D013036:Spasms, Infantile / Q000209:etiology*
chemical_list: D002352:Carrier Proteins