Presentation Information
[P1-12-15]A diagnostic Process for a 4-Year-Old Boy with Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome
○Makiko Fuyuki1, Eri Sakai2, Junko Hotta1,2, Tomoyo Yamashita1,2, Kosuke Ito1,2, Chie Ono2, Yukiko Jogu2, Haruka Bamba2, Toshiyuki Yamamoto3, Takashi Hamazaki1, Toshiyuki Seto1,2 (1.Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan, 2.Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan, 3.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan)