title: Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia.
authors.affiliation: Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA; Department of Neurology, Fukuoka University, Fukuoka, Japan.
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Fujioka
authors.affiliation: Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA.
authors.forename: Audrey J
authors.initials: AJ
authors.lastname: Strongosky
authors.affiliation: Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, USA.
authors.forename: Anhar
authors.initials: A
authors.lastname: Hassan
authors.affiliation: Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA.
authors.forename: Rosa
authors.initials: R
authors.lastname: Rademakers
authors.affiliation: Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA.
authors.forename: Dennis W
authors.initials: DW
authors.lastname: Dickson
authors.affiliation: Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA. Electronic address: Wszolek.zbigniew@mayo.edu.
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
mesh_terms: D000369:Aged, 80 and over; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000235:genetics*; D005145:Face / Q000473:pathology; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008334:Mandible / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics*; D014059:Tongue / Q000473:pathology
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C493589:SLC20A2 protein, human; D050611:Sodium-Phosphate Cotransporter Proteins, Type III; C474080:THAP1 protein, human
keywords: Basal ganglia calcification; Genetic testing; IBGC3; Oromandibular dystonia; SLC20A2; THAP1