Presentation Information
[P20-01]A case of brachytelephalangic chondrodysplasia punctata with VKORC1 pathogenic variant.
○Sayaka Ishii1, Kei Tamaru1, Kosuke Nakamura1, Tomohiro Saito2, NOBUYUKI KATSUMATA3, YOSHIMI KAGA4 (1.Department of Pediatrics, National Hospital Organization Kofu National Hospital, Yamanashi, Japan, 2.Department of Pediatrics, Yamanashi Prefectural Central Hospital, Yamanashi, Japan, 3.Department of Neonatology, Yamanashi Prefectural Central Hospital, Yamanashi, Japan, 4.Department of Pediatrics, University of Yamanashi, Yamanashi, Japan)