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Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

Isabella TabaroGiuseppe ReimondoGiangiacomo OsellaCaterina AuriziPasquale CaraciLuca BarbieriDaniela Francesca GiachinoFabio SirchiaMassimo Terzolo
Published in: Endocrine (2018)
Our case highlights the importance of considering VP in the differential diagnosis of SIAD and underlines the role of genetic screening in the management of such patients. The finding of a novel mutation of PPOX gene in our index case has allowed to recognize an affected family.
Keyphrases
  • genome wide
  • abdominal pain
  • copy number
  • end stage renal disease
  • ejection fraction
  • case report
  • newly diagnosed
  • chronic kidney disease
  • prognostic factors
  • peritoneal dialysis
  • dna methylation
  • gene expression