Article
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Kidney international - 1 Dec 2011
Chaki Moumita, Hoefele Julia, Allen Susan J, Ramaswami Gokul, Janssen Sabine, Bergmann Carsten, Heckenlively John R, Otto Edgar A, Hildebrandt Friedhelm
Abstract excerpt
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...
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