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A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development
Neurodevelopmental disorder caused by malformations of cortical development is a rare neurological disease. Heterozygous missense variants in the TUBG1 gene lead to malformations of human cortical development, which further result in intellectual disability, developmental retardation, and epilepsy....
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935588/ https://www.ncbi.nlm.nih.gov/pubmed/33728335 http://dx.doi.org/10.1155/2021/6644274 |