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Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance.

Pediatric nephrology (Berlin, Germany) - 1 May 2024

Wu Chen-Han Wilfred, Badreddine Jad, Su Ethan, Tay Kimberly, Lin Hsin-Ti Cindy, Rhodes Stephen, Schumacher Fredrick, Bodner Donald

Abstract excerpt

BACKGROUND: The objective of this study was to explore the frequency of occurrence of extra-renal manifestations associated with monogenic nephrolithiasis. METHODS: A literature review was conducted to identify genes that are monogenic causes of nephrolithiasis. The Online Mendelian Inheritance in Man (OMIM) database was used to identify associated diseases and their properties. Disease phenotypes were...

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PMID: 38057433
DOI: 10.1007/s00467-023-06242-z

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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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