[P16] Poster Presentation
teratology 2

[P-092] A cace of Cohen syndrome:Exome sequencing showed a deletion of exons &a nonsense mutation in VPS13B.

^○Mie Inaba¹, Yukako Muramatsu^1,2, Hiroko Taniai^1,3, Norie Nonobe⁴, Hiroki Kurahashi⁵, Seiji Mizuno¹ (1.Department of Pediatrics, Central Hospital Aichi Human Service Center, Aichi, Japan, 2.Department of pediatrics, Nagoya University, Aichi, Japan, 3.Central Care Center for Disabled Children City of Nagoya, Aichi, Japan, 4.Department of ophthalmology, Nagoya University, Aichi, Japan, 5.Division of Molecular Genetics Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan)