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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Publicat a:Clin J Am Soc Nephrol
Autors principals: 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
Idioma:Inglês
Publicat: American Society of Nephrology 2017
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Original Articles
Accés en línia: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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