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...

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Detalles Bibliográficos
Autores principales: Wang, Mina, Li, Bin, Liao, Zehuan, Jia, Yu, Fu, Yuanbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
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

Internet

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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