Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

  title={Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.},
  author={Emma L. Edghill and Richard A. Oram and Martina Owens and Karen L Stals and Lorna W Harries and Andrew T Hattersley and Sian Ellard and Coralie Bingham},
  journal={Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association},
  volume={23 2},
BACKGROUND Hepatocyte nuclear factor-1beta (HNF-1beta) is a critical transcription factor in pancreatic and renal development. Our previous report identified HNF-1beta mutations in 23/160 patients with unexplained renal disease. The most common phenotype is renal cysts, which is frequently associated with early-onset diabetes in the renal cysts and diabetes (RCAD) syndrome. HNF-1beta gene deletions have recently been shown to cause renal malformations and early-onset diabetes. METHODS We… CONTINUE READING


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