Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

@article{Chaki2011GenotypephenotypeCI,
  title={Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.},
  author={Moumita Chaki and Julia Hoefele and Susan J Allen and Gokul Ramaswami and Sabine A. Janssen and Carsten Bergmann and John R. Heckenlively and Edgar A. Otto and Friedhelm Hildebrandt},
  journal={Kidney international},
  year={2011},
  volume={80 11},
  pages={
          1239-45
        }
}
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal failure in the first three decades of life. Mutations in 13 genes (NPHP1-NPHP11, AHI1, and CC2D2A) cause NPHP with ubiquitous expression of the corresponding proteins consistent with the multiorgan involvement of NPHP-related diseases. The genotype-phenotype correlation in these ciliopathies can be explained by gene locus heterogeneity, allelism, and the impact of… CONTINUE READING

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