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Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.

Pediatric nephrology (Berlin, Germany) - 1 Nov 2023

Liu Yukun, Ge Yucheng, Zhan Ruichao, Zhao Zhenqiang, Li Jun, Wang Wenying

Abstract excerpt

BACKGROUND: The aim of this study was to describe the genotypic and phenotypic characteristics of Chinese pediatric patients with hereditary nephrolithiasis. METHODS: Whole-exome sequencing (WES) was performed on 218 Chinese pediatric patients with kidney stones, and genetic and clinical data were collected and analyzed retrospectively. RESULTS: The median age at onset in our cohort was 2.5 years (age range,...

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PMID: 37306718
DOI: 10.1007/s00467-023-06028-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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