Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:BMC Med Genomics
Autors principals: Wang, Mina, Li, Bin, Liao, Zehuan, Jia, Yu, Fu, Yuanbo
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7539513/
https://ncbi.nlm.nih.gov/pubmed/33023587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00801-1
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!