[P3] Congenital abnormality

[P-015] Escobar syndrome with mutations in the fetal subunit of the acetylcholine receptor（CHRNG）

Tomohiko Nakata¹, SEIJI MIZUNO², YUKI MAKI¹, MASAHIRO TANAKA¹, YU OKAI¹, YOKO SAKAGUCHI¹, HIROYUKI YAMAMOTO¹, ATSUKO ONO¹, HIROYUKI KIDOKORO¹, ISSEI IMOTO³, KINJI OHNO⁴, JUN NATSUME^1,5 (1.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 2.Aichi Prefectural Colony Central Hospital, Kasugai, Japan, 3.Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan, 4.Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan)