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Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion
BACKGROUND: Four cases of paroxysmal kinesigenic dyskinesia (PKD) have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2. CASE REPORT: We describe a fifth patient with PKD, features of Asperger’s syndrome, and mild language delays. Sanger sequencing of the PRRT2 ge...
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| Publicado no: | Tremor Other Hyperkinet Mov (N Y) |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Columbia University Libraries/Information Services
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4303604/ https://ncbi.nlm.nih.gov/pubmed/25667815 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7916/D8N58K0Q |
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