De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Joseph Gleeson and colleagues report exome sequencing of 20 individuals with hemimegalencephaly (HME), identifying de novo somatic mutations in the PIK3CA, AKT3 and MTOR genes.
Original Article: De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
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