Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related cilio...
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
About this item
Full title
Author / Creator
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 and Lilien, Marc R.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
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 nephronophthisis-related ciliopathy, to improve early detection...
Alternative Titles
Full title
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6132874
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6132874
Other Identifiers
ISSN
0931-041X
E-ISSN
1432-198X
DOI
10.1007/s00467-018-3958-7
