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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Detalles Bibliográficos
Autores principales: Liao, Panli, Xiang, Tianchao, Li, Hongxia, Fang, Ye, Fang, Xiaoyan, Zhang, Zhiqing, Cao, Qi, Zhai, Yihui, Chen, Jing, Xu, Linan, Liu, Jialu, Tang, Xiaoshan, Liu, Xiaorong, Wang, Xiaowen, Luan, Jiangwei, Shen, Qian, Chen, Lizhi, Jiang, Xiaoyun, Ma, Duan, Xu, Hong, Rao, Jia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116627/
https://www.ncbi.nlm.nih.gov/pubmed/33996673
http://dx.doi.org/10.3389/fped.2021.566524

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