[P2-06] Poster Session 2-06　Clinical Genetics 2

[P2-06-3] Compound heterozygous variants of PNPT1 identified in a patient with severe neurodevelopmental delay

Tomoe Yanagishita¹, Rina Shimomura^1,2, Akiko Takeshita¹, Kyoko Hirasawa¹, Kouhei Hamanaka³, Satoko Miyatake³, Satoru Nagata¹, Naomichi Matsumoto³, Toshiyuki Yamamoto^1,2,4 (1.Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan, 2.Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 4.Division of Gene Medicine, Graduate School of Medicine, Tokyo Women’s Medical University, Tokyo, Japan)

Password required to view

Log in

or