Neonatal seizures associated with a rare familial 16p11.2 microduplication: A case report
The human 16p11.2 BP4–BP5 region, composed of low-copy repeats, is prone to mediating recurrent copy number variations that increase the risk of neurodevelopmental disorders. Compared with 16p11.2 deletion variants, duplication variants have lower penetrance and higher phenotypic heterogeneity. Due...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2025-07-01
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| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/03000605251358613 |
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