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 nephronophthisis-related ciliopathy, to improve early detection and genetic counseling. METHODS: Forty patients from 36 families with nephronophthisis-related ciliopathy were recruited at university medical centers and online. Comprehensive clinical and genotypic data were recorded. Patients without molecular diag... Mehr ...

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Verfasser: 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
Dokumenttyp: Artikel
Erscheinungsdatum: 2018
Reihe/Periodikum: Stokman , M F , van der Zwaag , B , van de Kar , N C A J , van Haelst , M M , van Eerde , A M , van der Heijden , J W , Kroes , H Y , Ippel , E , Schulp , A J A , van Gassen , K L , van Rooij , I A L M , Giles , R H , Beales , P L , Roepman , R , Arts , H H , Bongers , E M H F , Renkema , K Y , Knoers , N V A M , van Reeuwijk , J & Lilien , M R 2018 , ' Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy ' , Pediatric Nephrology , vol. 33 , no. 10 , pp. 1701-1712 . https://doi.org/10.1007/s00467-018-3958-7 ; ISSN:0931-041X
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-26670368
Datenquelle: BASE; Originalkatalog
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Link(s) : http://hdl.handle.net/11370/1e25b6b3-735f-4605-9204-d9badbf1c1a2