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A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report
BACKGROUND: The microdeletion of chromosome 13 has been rarely reported. Here, we report a 14-year old Asian female with a de novo microdeletion on 13q12.3. CASE PRESENTATION: The child suffered mainly from two types of epileptic seizures: partial onset seizures and myoclonic seizures, accompanied w...
Autores principales: | Wang, Mina, Li, Bin, Liao, Zehuan, Jia, Yu, Fu, Yuanbo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539513/ https://www.ncbi.nlm.nih.gov/pubmed/33023587 http://dx.doi.org/10.1186/s12920-020-00801-1 |
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