Nephrogenic diabetes insipidus caused by a novel missense variant (p.S127Y) in the gene.
作者信息
Maeyama Takatoshi, Etani Yuri, Nishigaki Satsuki, Kawai Masanobu
机构信息
Department of Gastroenterology, Nutrition and Endocrinology, Osaka Women's and Children's Hospital, Osaka, Japan.
Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka, Japan.
出版信息
Clin Pediatr Endocrinol. 2021;30(2):115-118. doi: 10.1297/cpe.30.115. Epub 2021 Apr 3.
Abstract
摘要
Zotero 插件