Presentation Information
[P2-08-8]Constitutional Mismatch Repair Deficiency Syndrome caused by compound heterozygous pathogenic variants MSH2 gene
○Hiroko Shigetomi1, Ryo Hamada1, Yusuke Akane1, Akira Takebayashi1, Aki Ishikawa1,2, Masaki Yamamoto1, Shota Kato3, Yoshiko Nakano3, Motohiro Kato3, Takeshi Tsugawa1 (1.Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan, 2.Department of Clinical Genetics, Sapporo Medical University Hospital, Sapporo, Japan, 3.Department of Pediatrics, School of Medicine, Tokyo University, Tokyo, Japan)