Clinical journal of the American Society of Nephrology : CJASN
Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.
Friederike Petzold, Cécile Jeanpierre, Xiaoyi Chen, Vincent Morinière, Alexandre Benmerah, Guillaume Dorval, Hassan Saei, Laurence Heidet, Corinne Antignac, Sophie Saunier, INSERM–Necker Hospital NPH collaborative group
Published: 202510.2215/CJN.0000000905
Abstract
BACKGROUND: Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial kidney disease and a leading genetic cause of chronic kidney failure (KF) in children and young adults. As a ciliopathy, NPH is caused by biallelic variants in genes enco…
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