De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean Baptiste Rivière, Ghayda M. Mirzaa, Brian J. O'Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St-Onge, Jeremy A. Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas R. Ward, Hailly E. Butler, Nancy A. Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl CytrynbaumBeth A. Drolet, A. Micheil Innes, Julie L. Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand K. Saggar, Tally Lerman-Sagie, Gã Khan Uyanik, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O'Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns

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