De novo variants of IRF2BPL result in developmental epileptic disorder
Abstract Background Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused on IRF2BPL in zebrafish are limited. Results We reported three probands diagnosed with developmental delay and epilepsy and investigated the role of IRF2BPL...
Na minha lista:
| Principais autores: | , , , , , , , , |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMC
2024-03-01
|
| Serier: | Orphanet Journal of Rare Diseases |
| Fag: | |
| Online adgang: | https://doi.org/10.1186/s13023-024-03130-z |
| Tags: |
Ingen Tags, Vær først til at tagge denne postø!
|