Presentation Information
[P2-04-6]A Case of Lethal Multiple Pterygium Syndrome with Compound Heterozygous Variants in the CHAT Gene
○Miwako Nagasaka1,2, Yuka Yotsumoto1,2, Hiroaki Hanafusa3, Naoya Morisada3,4, Kandai Nozu3, Tomoko Tamaoki1 (1.Center for Clinical and Molecular Genetics, Takatsuki General Hospital, 2.Department of Pediatrics, Takatsuki General Hospital, 3.Department of Pediatrics, Kobe University Graduate School of Medicine, 4.Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital)