Presentation Information
[P2-05-3]A novel variant in COL2A1 in hypochondrogenesis
○Ami Kobayashi1, Kenji Horie1, Fuyuki Hasegawa2, Asuka Hori3, Hanako Otachi1, Rieko Furukawa4, Takafumi Okusa1, Manabu Ogoyama1, Hirotada Suzuki1, Kenichiro Hata3, Hironori Takahashi1, Hiroyuki Fujiwara1 (1.Department of Obstetrics and Gynecology, Jichi Medical University, 2.Center for Clinical Genetics, National Center for Child Health and Development, 3.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, 4.Department of Radiology, Jichi Medical University)