Presentation Information
[P2-11]A boy with a novel variant in the ANO3 gene with developmental regression and ataxia
○Kaoru Eto1,2, Tomofusa Nagata1, Takuya Ookawa2, Yuya Sato2, Tomoe Yanagishita2, Yoshiki Oitani1, Hidetsugu Nakatsukasa2, Susumu Ito2, Hisafumi Matsuoka1, Toshiyuki Yamamoto3, Satoru Nagata2 (1.Tokyo Women's Medical University, Adachi Medical Center, Department of Pediatrics, 2.Tokyo Women's Medical University, Department of Pediatrics, 3.Tokyo Women's Medical University, Institute of Clinical Genomics)