Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies

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....

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Bibliografiske detaljer
Udgivet i:Clin J Am Soc Nephrol
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Nephrology 2017
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5718263/
https://ncbi.nlm.nih.gov/pubmed/29146700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.01280217
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