A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

Abstract Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially...

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Bibliographic Details
Main Authors: Saisai Yang, Guanghui Yao, Xin Chen, Huirong Shi, Chihhong Lou, Shumin Ren, Zhihui Jiao, Cong Wang, Xiangdong Kong, Qinghua Wu
Format: Article
Language:English
Published: BMC 2022-06-01
Series:BMC Nephrology
Subjects:
Nephrolithiasis
Next generation sequencing
KCNJ1
Bartter syndrome
Online Access:https://doi.org/10.1186/s12882-022-02783-x

Internet

https://doi.org/10.1186/s12882-022-02783-x

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