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Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.
Mu, Weiyi; Tochen, Laura; Bertsch, Caroline; Singer, Harvey S; Barañano, Kristin W.
Affiliation
  • Mu W; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Tochen L; Department of Neurology, Children's National Health System, Washington, DC, USA.
  • Bertsch C; Division of Medical Genetics, University of Texas, Houston, Texas, USA.
  • Singer HS; Departments of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
  • Barañano KW; Departments of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
BMJ Case Rep ; 12(5)2019 May 27.
Article in En | MEDLINE | ID: mdl-31133547
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Dystonia / Nervous System Malformations Type of study: Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: BMJ Case Rep Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Dystonia / Nervous System Malformations Type of study: Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: BMJ Case Rep Year: 2019 Document type: Article Affiliation country: Country of publication: