Presentation Information
[O9-02]A female individual of L1 syndrome with a novel splice acceptor site variant in the L1CAM gene
○Megumi Yonekawa1, kyoko Takano4,5, Tomomi Yamaguchi4,5,6, Tomoki Kosho4,5,6, Takaya Iida3, Kumiko Yanagi3, Tadashi Kaname3, Machiko Hosoya2, Tetsuhiro Fukuyama1 (1.Department of Pediatrics, Shinshu University school of medicine , Matsumoto, Japan, 2.Department of Pediatrics, Saku Central Hospital, Saku, Japan, 3.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 4.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 5.Department of Medical genetics, Shinshu Universitiy school of Medicine, Matsumoto, Japan, 6.Division of Clinical Sequencing, Shinshu Universitiy school of Medicine, Matsumoto, Japan)