Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants
IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2023-05-01
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| Series: | Journal of Central Nervous System Disease |
| Online Access: | https://doi.org/10.1177/11795735231181467 |