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

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...

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Detalhes bibliográficos

Principais autores:	Panli Liao, Tianchao Xiang, Hongxia Li, Ye Fang, Xiaoyan Fang, Zhiqing Zhang, Qi Cao, Yihui Zhai, Jing Chen, Linan Xu, Jialu Liu, Xiaoshan Tang, Xiaorong Liu, Xiaowen Wang, Jiangwei Luan, Qian Shen, Lizhi Chen, Xiaoyun Jiang, Duan Ma, Hong Xu, Jia Rao
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2021-04-01
coleção:	Frontiers in Pediatrics
Assuntos:	nephrogenic diabetes insipidus AVPR2 AQP2 protein structure genomics
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fped.2021.566524/full
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