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Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome.

Jeff GranhøjThomas K NøhrGitte R HinrichsMaria RasmussenPer Svenningsen
Published in: Clinical journal of the American Society of Nephrology : CJASN (2024)
Patients with genetically confirmed Liddle syndrome displayed a phenotypic spectrum, with ENaC-sensitive hypertension and family history of hypertension being the most common features. The phenotype seemed independent of the specific gene or variant type involved.
Keyphrases
  • blood pressure
  • case report
  • copy number
  • gene expression