Evidence of oligogenic inheritance in nephronophthisis.

@article{Hoefele2007EvidenceOO,
  title={Evidence of oligogenic inheritance in nephronophthisis.},
  author={Julia Hoefele and Matthias T F Wolf and John Francis O'Toole and Edgar A. Otto and Ulla T Schultheiss and Georges Desch{\^e}nes and Massimo Attanasio and Boris Utsch and Corinne Antignac and Friedhelm Hildebrandt},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2007},
  volume={18 10},
  pages={
          2789-95
        }
}
Nephronophthisis is a recessive cystic renal disease that leads to end-stage renal failure in the first two decades of life. Twenty-five percent of nephronophthisis cases are caused by large homozygous deletions of NPHP1, but six genes responsible for nephronophthisis have been identified. Because oligogenic inheritance has been described for the related Bardet-Biedl syndrome, we evaluated whether mutations in more than one gene may also be detected in cases of nephronophthisis. Because the… CONTINUE READING
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