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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Vydáno v:Ann Neurol
Hlavní autoři: Shi, Xiuyu, Lim, Youngshin, Myers, Abigail K., Stallings, Brenna L., Mccoy, Almedia, Zeiger, Jordan, Scheck, Joshua, Cho, Ginam, Marsh, Eric D., Mirzaa, Ghayda M., Tao, Tao, Golden, Jeffrey A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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Article
On-line přístup: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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