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PIK3R2/Pik3r2 activating mutations result in brain overgrowth and EEG changes
OBJECTIVE: Mutations in phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) complex have been associated with a broad spectrum of brain and organ overgrowth syndromes. For example, mutations in phosphatidylinositol-3-kinase regulatory subunit 2 (PIK3R2) have been identified in patients with megale...
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| Publicado no: | Ann Neurol |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8176885/ https://ncbi.nlm.nih.gov/pubmed/32856318 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25890 |
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