Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

doi:10.2215/CJN.01280217

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Article

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

Clinical journal of the American Society of Nephrology : CJASN - 7 Dec 2017

König Jens, Kranz Birgitta, König Sabine, Schlingmann Karl Peter, Titieni Andrea, Tönshoff Burkhard, Habbig Sandra, Pape Lars, Häffner Karsten, Hansen Matthias, Büscher Anja, Bald Martin, Billing Heiko, Schild Raphael, Walden Ulrike, Hampel Tobias, Staude Hagen, Riedl Magdalena, Gretz Norbert, Lablans Martin, Bergmann Carsten, Hildebrandt Friedhelm, Omran Heymut, Konrad Martin

Abstract excerpt

BACKGROUND AND OBJECTIVES: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on...

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Identifiers

PMID: 29146700
DOI: 10.2215/CJN.01280217
PMCID: PMC5718263

Genes

NPHP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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