Segmental overgrowth syndrome due to an activatingPIK3CAmutation identified in affected muscle tissue by exome sequencing

Maria Rasmussen, Lone Sunde, Karen Petra Weigert, Pauline Wilhemina Bogaard, Dorte L. Lildballe
2014 American Journal of Medical Genetics. Part A  
doi:10.1002/ajmg.a.36454 pmid:24665065 fatcat:zotm3vpkwjaf3l5gefehsp6jvi