Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.

Tomohiko YamamuraNaoya MorisadaKandai NozuShogo MinamikawaShingo IshimoriDaisaku ToyoshimaTakeshi NinchojiMasato YasuiMariko Taniguchi-IkedaIchiro MoriokaKoichi NakanishiHisahide NishioKazumoto Iijima

Published in: Clinical and experimental nephrology (2016)

Our results suggest that a comprehensive genetic screening system using target resequencing is useful and non-invasive for the diagnosis of patients with an unknown cause of pediatric end-stage renal disease.

Keyphrases

end stage renal disease
chronic kidney disease
peritoneal dialysis
cancer therapy
genome wide
copy number
gene expression
drug delivery