Whole-exome sequencing of a multicenter cohort identifies genetic changes associated with clinical phenotypes in pediatric nephrotic syndrome

Understanding the association between the genetic and clinical phenotypes in children with nephrotic syndrome (NS) of different etiologies is critical for early clinical guidance. We employed whole-exome sequencing (WES) to detect monogenic causes of NS in a multicenter cohort of 637 patients. In th...

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Detalles Bibliográficos
Autores principales: Jiao, Jia, Wang, Li, Ni, Fenfen, Wang, Mo, Feng, Shipin, Gao, Xiaojie, Chan, Han, Yang, Xueying, Lee, Hao, Chi, Huan, Chen, Xuelan, Wu, Daoqi, Zhang, Gaofu, Yang, Baohui, Wang, Anshuo, Yang, Qin, Wan, Junli, Yu, Sijie, Li, Xiaoqin, Wang, Mei, Chen, Xiaofeng, Mai, Xianying, Ruan, Xiongzhong, Yang, Haiping, Li, Qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2022
Materias:
Full Length Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9485284/
https://www.ncbi.nlm.nih.gov/pubmed/36157477
http://dx.doi.org/10.1016/j.gendis.2022.03.023

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