De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Jeong Ho Lee(Korea Advanced Institute of Science and Technology), Joseph G. Gleeson(Children’s Institute), Andrew Heiberg(Howard Hughes Medical Institute), Vincent Funari(Canadian Association of Nurses in Oncology), Kiley J. Hill(Howard Hughes Medical Institute), Eric Scott(Howard Hughes Medical Institute), Gary W. Mathern(University of California, Los Angeles), Adrienne Collazo(Howard Hughes Medical Institute), Sangwoo Kim(Severance Hospital), Stacey B. Gabriel(Broad Institute), Jennifer L. Silhavy(Howard Hughes Medical Institute), Carsten Russ(Broad Institute), Tracy Dixon‐Salazar(Lennox-Gastaut Syndrome Foundation), My N. Huynh(University of California, Los Angeles), Vineet Bafna(University of California San Diego)
Nature Genetics
June 24, 2012
Cited by 696


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