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

• Príomhchruthaitheoirí: Ruijue Zhu (Údar), Mingming Zhu (Údar), Boye Wang (Údar), Enen Chen (Údar), Danlei Cai (Údar), Yinghong Yang (Údar), Yi Liang (Údar), Chuqi Su (Údar), Ding Wang (Údar), Xiaofang Sun (Údar), Linhuan Huang (Údar), Yingjun Xie (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2024-01-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

Abstract Introduction 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 clinical diagnosis is complex and poses a challenge to clinicians. Meth...