Article
Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders.
Kidney international - 1 Jul 2009
Webb Michael P, Dicks Elizabeth L, Green Jane S, Moore Susan J, Warden Geoff M, Gamberg Jane S, Davidson William S, Young Terry-Lynn, Parfrey Patrick S
Abstract excerpt
Bardet-Biedl Syndrome (BBS) is an autosomal recessive, multisystem, genetically heterogeneous, ciliopathic condition caused by mutations in multiple genes. Here we sought to determine if inheritance of a single BBS mutation increased the risks of frequent disorders of this syndrome such as obesity, hypertension, and diabetes. Various metabolic and renal diseases in a cohort of 46 patients with BBS, prospectively...
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