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Article

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq).

BMC nephrology - 11 May 2020

Ye Yuhong, Wang Jingjing, Quan Xiaofang, Xu Ke, Fu Haidong, Gu Weiyue, Mao Jianhua

Abstract excerpt

BACKGROUND: Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before. CASE PRESENTATION: Here we report a 3-year and 11-month old Chinese girl with short stature who had a karyotype of 46,X,i(X)(q10) and a de novo pathogenic variant in the CLCN5...

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Identifiers

PMID: 32393202
DOI: 10.1186/s12882-020-01827-4
PMCID: PMC7216489

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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