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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...
में बचाया:
| में प्रकाशित: | BMC Med Genomics |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2020
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| विषय: | |
| ऑनलाइन पहुंच: | 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 |
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