Whole Genome Sequence Analysis Identifies a PAX2 Mutation to Establish a Correct Diagnosis for a Syndromic Form of Hyperuricemia

Research output: Contribution to journalArticle


  • Mark Stevenson
  • Alistair Pagnamenta
  • Silvia Reichart
  • Charlotte Philpott
  • Kate Lines
  • Karl Lhotta
  • Jenny Taylor
  • Rajesh Thakker

Colleges, School and Institutes

External organisations

  • University of Oxford


Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Publication statusAccepted/In press - 8 Jul 2020