A novel deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta.
作者信息
Yamada Chieko, Kubota Takuo, Ishimi Takeshi, Takeyari Shinji, Yamamoto Kenichi, Nakayama Hirofumi, Ohata Yasuhisa, Fujiwara Makoto, Kitaoka Taichi, Ozono Keiichi
机构信息
Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan.
出版信息
Clin Pediatr Endocrinol. 2022;31(3):205-208. doi: 10.1297/cpe.2022-0027. Epub 2022 Jun 17.
Abstract
摘要
Zotero 插件