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Article

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.

Molecular genetics and genomics : MGG - 1 Jul 2022

Huang Lin, Qi Chang, Zhu Gaohong, Ding Juanjuan, Yuan Li, Sun Jie, He Xuelian, Wang Xiaowen

Abstract excerpt

OBJECTIVE: Hereditary factors are the main cause of pediatric nephrolithiasis (NL)/nephrocalcinosis (NC). We summarized the genotype-phenotype correlation of hereditary NL/NC in our center, to evaluate the role of genetic testing in early diagnosis. METHODS: The clinical data of 32 NL/NC cases, which were suspected to have an inherited basis, were retrospectively analyzed from May 2017 to August 2020. The...

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Identifiers

PMID: 35612621
DOI: 10.1007/s00438-022-01897-z
PMCID: PMC9250473

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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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