title: Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
authors.affiliation: Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Geetanjali S
authors.initials: GS
authors.lastname: Rathore
authors.forename: Christian P
authors.initials: CP
authors.lastname: Schaaf
authors.forename: Amber J
authors.initials: AJ
authors.lastname: Stocco
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009154:Mutation; D009410:Nerve Degeneration / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000235:genetics*; D011782:Quadriplegia / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C578284:WDR45 protein, human