PIK3CA -associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Mirzaa, Ghayda ; Timms, Andrew E ; Conti, Valerio ; Boyle, Evan August ; Girisha, Katta M ; Martin, Beth ; Kircher, Martin ; Olds, Carissa ; Juusola, Jane ; Collins, Sarah ; Park, Kaylee ; Carter, Melissa ; Glass, Ian ; Krägeloh-Mann, Inge ; Chitayat, David ; Parikh, Aditi Shah ; Bradshaw, Rachael ; Torti, Erin ; Braddock, Stephen ; Burke, Leah ; Ghedia, Sondhya ; Stephan, Mark ; Stewart, Fiona ; Prasad, Chitra ; Napier, Melanie ; Saitta, Sulagna ; Straussberg, Rachel ; Gabbett, Michael ; O'Connor, Bridget C ; Keegan, Catherine E ; Yin, Lim Jiin ; Lai, Angeline Hwei Meeng ; Martin, Nicole ; McKinnon, Margaret ; Addor, Marie-Claude ; Boccuto, Luigi ; Schwartz, Charles E ; Lanoel, Agustina ; Conway, Robert L ; Devriendt, Koenraad ; Tatton-Brown, Katrina ; Pierpont, Mary Ella ; Painter, Michael ; Worgan, Lisa ; Reggin, James ; Hennekam, Raoul ; Tsuchiya, Karen ; Pritchard, Colin C ; Aracena, Mariana ; Gripp, Karen W ; Cordisco, Maria ; Van Esch, Hilde ; Garavelli, Livia ; Curry, Cynthia ; Goriely, Anne ; Kayserilli, Hulya ; Shendure, Jay ; Graham, Jr, John ; Guerrini, Renzo ; Dobyns, William B

JCI insight, 2016-06, Vol.1 (9) [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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