Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

BACKGROUND: Nephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent. This study investigates clinical characteristics, initial symptoms, and genetic defects in a cohort with nephronophthisi...

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Udgivet i:Pediatr Nephrol
Main Authors: Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C. A. J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J. A., van Gassen, Koen L., van Rooij, Iris A. L. M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M. H. F., Renkema, Kirsten Y., Knoers, Nine V. A. M., van Reeuwijk, Jeroen, Lilien, Marc R.
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2018
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6132874/
https://ncbi.nlm.nih.gov/pubmed/29974258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-018-3958-7
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