Presentation Information
[O7-02]Distinct pathophysiological mechanisms in CEP152 gene abnormalities causing Seckel syndrome
○Koh-ichi Nagata1, Nanako Hamada1, Takuma Nishijo1, Tomoko Uehara2, Toshiki Takenouchi3, Kenjiro Kosaki2, Seiji Mizuno4 (1.Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan, 2.Center for Medical Genetics, Keio University Graduate School of Medicine, Tokyo, Japan, 3.Department of Pediatrics, Keio University Graduate School of Medicine, Tokyo, Japan, 4.Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan)