[O9] 発達・神経発達症 2

[O9-1] Pathophysiological significance of novel CEP152 variants in Seckel syndrome

^○Koh-ichi Nagata^1,2, Nanako Hamada¹, Takuma Nishijo¹, Tomoko Uehara^2,4, Toshiki Takenouchi³, Kenjiro Kosaki⁴, Seiji Mizuno² (1.Department of Molecular Neurobiology, Aichi Developmental Disability Center, Kasugai, Japan, 2.Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan, 3.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 4.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)