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....

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Clin J Am Soc Nephrol
Auteurs principaux: 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
Langue:Inglês
Publié: American Society of Nephrology 2017
Sujets:
Original Articles
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires