[P16] Poster Presentation
teratology 2

[P-088] A 5-year-old boy presenting macrocephaly and intellectual disability with de novo mutation of PTEN

^○Ayumi Matsumoto¹, Hitoshi Osaka¹, Nozomu Kitahara³, Eri Imagawa², Noriko Miyake², Naomichi Matsumoto², Takanori Yamagata¹ (1.Department of Pediatrics, Jichi medical university, Tochigi, Japan, 2.Department of human genetics, Yokohama city university graduated school of medicine, Yokohama, Japan, 3.Department Pediatrics, Tochigi Medical Center, Tochigi, Japan)