Background: Bardet-Biedl syndrome (BBS) is a autosomal-recessive ciliopathy characterized by defects in multiple organ systems causing retinal degeneration, obesity, hypogonadism, polydactyly, mental retardation, and renal dysfunction. In particular, polyuria and polydipsia, with impairment of renal concentration ability, are the earliest signs of renal dysfunction.
Knockdown of BBS10 in Renal Cells Affects Apical Targeting of AQP2: A Possible Explanation for the Polyuria Associated with Bardet-Biedl Syndrome
PROCINO, Giuseppe;SVELTO, Maria
2012-01-01
Abstract
Background: Bardet-Biedl syndrome (BBS) is a autosomal-recessive ciliopathy characterized by defects in multiple organ systems causing retinal degeneration, obesity, hypogonadism, polydactyly, mental retardation, and renal dysfunction. In particular, polyuria and polydipsia, with impairment of renal concentration ability, are the earliest signs of renal dysfunction.File in questo prodotto:
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