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Neurological Phenotypes of IRF2BPL 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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280516/ https://www.ncbi.nlm.nih.gov/pubmed/37346291 http://dx.doi.org/10.1177/11795735231181467 |