Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study

Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clini...

Source: BMC Medical Genomics - January 24, 2024 Category: Genetics & Stem Cells Authors: Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang and Yingjun Xie Tags: Research Source Type: research