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A novel variant of CDK19 causes a severe neurodevelopmental disorder with infantile spasms
Infantile spasms are a potentially catastrophic form of epilepsy syndrome that are usually associated with substantial developmental delay and commonly occur in children younger than 1 yr. Recent reports on four cases revealed that variants harbored in a novel gene CDK19 were causative for the syndr...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040737/ https://www.ncbi.nlm.nih.gov/pubmed/33568421 http://dx.doi.org/10.1101/mcs.a006082 |