Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports

Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports

Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, and chronic kidney disease. Infants may mani...

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Bibliographic Details
Main Authors:	Min Wen, Tian Shen, Ying Wang, Yongzhen Li, Xiaoliu Shi, Xiqiang Dang
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2018-12-01
Series:	Frontiers in Medicine
Subjects:	dent disease 1 next-generation sequencing low molecular weight proteinuria CLCN5 gene mutation early diagnosis
Online Access:	https://www.frontiersin.org/article/10.3389/fmed.2018.00347/full

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