Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet–Biedl Syndrome

Author:

Marchese Emanuela,Ruoppolo Margherita,Perna Alessandra,Capasso GiovambattistaORCID,Zacchia Miriam

Funder

Università degli Studi della Campania

Publisher

Elsevier BV

Subject

Nephrology

Reference101 articles.

1. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy;Zaghloul;J Clin Invest,2009

2. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey;Beales;J Med Genet,1999

3. Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion;Zacchia;Am J Physiol Renal Physiol,2016

4. The spectrum of renal disease in Laurence-Moon-Biedl syndrome;Harnett;N Engl J Med,1988

5. Patho-physiology of renal dysfunction in Bardet-Biedl syndrome [in Italian];Zona;G Ital Nefrol,2017

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