A rational approach to the use of sophisticated genetic analyses of pediatric stone disease

Craig B. Langman*

*Corresponding author for this work

Research output: Contribution to journalComment/debate

3 Scopus citations

Abstract

Kidney stone disease in the childhood years has a genetic underpinning in some. The relationships between clinical phenotype, medical evaluation, and genetic etiologies were investigated using whole-exome sequencing by the Hildebrandt laboratory. At this time, a genetic evaluation of pediatric nephrolithiasis should be reserved for specific circumstances when clinical uncertainty of the reason for the presence of the stone or therapy is not satisfactory.

Original languageEnglish (US)
Pages (from-to)15-18
Number of pages4
JournalKidney international
Volume93
Issue number1
DOIs
StatePublished - Jan 2018

ASJC Scopus subject areas

  • Nephrology

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