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[P1-12-5]A heterozygous MMP13 pathogenic variant (p.Met91Thr) in two Japanese infants with metaphyseal anadysplasia type 1
○Midori Motokawa1, Haruka Kawamura1, Tatsuki Urakawa1,2, Masayo Kagami2, Maki Hukami2, Noriyuki Namba3, Sumito Dateki1 (1.Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 2.Department of Molecular Endocrinology, National Center for Child Health and Development, Tokyo, Japan, 3.Department of Pediatrics and Perinatology, Tottori University Faculty of Medicine)