Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus

• Main Authors: Panli Liao (Author), Tianchao Xiang (Author), Hongxia Li (Author), Ye Fang (Author), Xiaoyan Fang (Author), Zhiqing Zhang (Author), Qi Cao (Author), Yihui Zhai (Author), Jing Chen (Author), Linan Xu (Author), Jialu Liu (Author), Xiaoshan Tang (Author), Xiaorong Liu (Author), Xiaowen Wang (Author), Jiangwei Luan (Author), Qian Shen (Author), Lizhi Chen (Author), Xiaoyun Jiang (Author), Duan Ma (Author), Hong Xu (Author), Jia Rao (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Congenital nephrogenic diabetes insipidus (NDI) is a rare genetic disorder characterized by renal inability to concentrate urine. We utilized a multicenter strategy to investigate the genotype and phenotype in a cohort of Chinese children clinically diagnosed with NDI from 2014 to 2019. Ten boys fro...