[P16] Poster Presentation
teratology 2

[P-091] Novel compound heterozygous variants in PLK4 cause microcephaly and chorioretinopathy

^○Setsuri Yokoi^1,2, Makiko Tsutsumi², Fuyuki Miya³, Masafumi Miyata⁴, Mitsuhiro Kato⁵, Nobuhiko Okamoto⁶, Tatsuhiko Tsunoda³, Mami Yamasaki⁷, Yonehiro Kanemura⁸, Kenjiro Kosaki⁹, Shinji Saitoh¹⁰, Hiroki Kurahashi² (1.Aichi Prefectural Aoitori Medical and Rehabilitation Center for Developmental Disabilities, Nagoya, Japan, 2.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan, 3.Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan, 4.Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan, 5.Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan, 6.Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, 7.Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka, Japan, 8.Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan, 9.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 10.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan)