A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in .
作者信息
Fukuma Mami, Takagi Masaki, Shimazu Tomoyuki, Imamura Hoseki, Yagi Hiroko, Nishimura Gen, Hasegawa Tomonobu
机构信息
Department of Pediatrics, Kumamoto Saishunso National Hospital, Kumamoto, Japan.
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
出版信息
Clin Pediatr Endocrinol. 2018;27(3):193-196. doi: 10.1297/cpe.27.193. Epub 2018 Jul 31.
Abstract
摘要
Zotero 插件