Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans

• DOI: 10.1126/scitranslmed.aad9982
• Publication Date: 2016-03-30T23:12:15Z
• Authors: Sandra D. Castillo; Elena Tzouanacou; May Zaw-Thin; Inma M. Berenjeno; Victoria E.R. Parker; Iñigo Chivite; Maria Milà-Guasch; Wayne Pearce; Isabelle Solomon; Ana Angulo-Urarte; Ana M. Figueiredo; Robert E. Dewhurst; Rachel G. Knox; Graeme R. Clark; Cheryl L. Scudamore; Adam Badar; Tammy L. Kalber; Julie Foster; Daniel J. Stuckey; Anna L. David; Wayne A. Phillips; Mark F. Lythgoe; Valerie Wilson; Robert K. Semple; Neil J. Sebire; Veronica A. Kinsler; Mariona Graupera; Bart Vanhaesebroeck
• Keywords: Venous malformation; Congenital malformations

Mutant Pik3ca gives rise to venous malformations.