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

Author:

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 Steve,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 John,Guerrini Renzo,Dobyns William B.

Publisher

American Society for Clinical Investigation

Subject

General Medicine

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5. Activating Mutations of the Stimulatory G Protein in the McCune–Albright Syndrome

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