PIK3CA-associated Developmental Disorders Exhibit Distinct Classes of Mutations with Variable Expression and Tissue Distribution
Ghayda Mirzaa,Andrew E. Timms,Valerio Conti,Evan August Boyle,Katta M. Girisha,Beth Martin,Martin Kircher,Carissa Olds,Jane Juusola,Sarah Collins,Kaylee Park,Melissa Carter,Ian Glass, Inge Kroegeloh-Mann,David Chitayat,Aditi Shah Parikh,Rachael Bradshaw,Erin Torti,Stephen Braddock,Leah Burke,Sondhya Ghedia,Mark Stephan,Fiona Stewart,Chitra Prasad,Melanie Napier,Sulagna Saitta,Rachel Straussberg,Michael Gabbett,Bridget C. O'Connor,Catherine E. Keegan, Lim Jiin Yin,Angeline Hwei Meeng Lai,Nicole Martin,Margaret McKinnon,Marie-Claude Addor,Luigi Boccuto,Charles E. Schwartz,Agustina Lanoel,Robert L. Conway,Koenraad Devriendt,Katrina Tatton-Brown,Mary Ella Pierpont,Michael Painter,Lisa Worgan,James Reggin,Raoul Hennekam,Karen Tsuchiya,Colin C. Pritchard,Mariana Aracena,Karen W. Gripp,Maria Cordisco,Hilde Van Esch,Livia Garavelli,Cynthia Curry,Anne Goriely,Hulya Kayserilli,Jay Shendure,John Graham,Renzo Guerrini,William B. Dobyns JCI Insight（2016）
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