P1-4: Growth

[P1-4-13] A Novel de novo Germline Mutation Glu40Lys in AKT3 causes Megalencephaly with Growth Hormone Deficiency.

^○Nagahara Keiko^1,2, Masaki Takagi^1,3, Takanari Fujii², Gen Nishimura⁴, Mitsuhiro Kato², Kazushige Dobashi², Kazuo Itabashi², Satoshi Narumi³, Tomonobu Hasegawa³ (1.Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, 2.Department of Pediatrics, Showa University School of Medicine, 3.Department of Pediatrics, Keio University School of Medicine, 4.Department of Radiology, Tokyo Metropolitan Children's Medical Center)