Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria). Mutations of the AKT3 gene have been repor...
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| Dokumentumtípus: | Cikk |
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Oxford University Press
2017
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| Sorozat: | BRAIN
140 No. 10 |
| doi: | 10.1093/brain/awx203 |
| mtmt: | 3324478 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/12877 |