Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease
Abstract
IntroductionBecause of phenotypic overlap between monogenic urinary stone diseases (USD), gene-specific analyses can result in missed diagnoses. We used targeted next generation sequencing (tNGS), including known and candidate monogenic USD genes, to analyze suspected primary hyperoxaluria (PH) or Dent disease (DD) patients genetically unresolved (negative; N) after Sanger analysis of the known genes. Cohorts consisted of 285 PH (PHN) and 59 DD...
Paper Details
Title
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease
Published Date
Nov 1, 2021
Journal
Volume
6
Issue
11
Pages
2862 - 2884
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