A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

Overview of attention for article published in BMC Medical Genomics, January 2017

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M-CM Network, 19 Jan 2017

Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence…

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