The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.

Riise, Ruth; Tornqvist, Kristina; Wright, Alan F; Mykytyn, Kirk; Sheffield, Val C

Riise, Ruth; Tornqvist, Kristina; Wright, Alan F; Mykytyn, Kirk; Sheffield, Val C.

Affiliation

Riise R; Department of Ophthalmology, Central Hospital of Hedmark, 2326 Hamar, Norway. ruthr@online.no

Arch Ophthalmol ; 120(10): 1364-7, 2002 Oct.

Article in En | MEDLINE | ID: mdl-12365916

Subject(s)

Bardet-Biedl Syndrome/genetics; Mutation; Proteins/genetics; Adolescent; Adult; Bardet-Biedl Syndrome/pathology; Bardet-Biedl Syndrome/physiopathology; Bardet-Biedl Syndrome/psychology; Female; Fundus Oculi; Homozygote; Humans; Intelligence; Male; Microtubule-Associated Proteins; Phenotype; Visual Acuity

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Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Bardet-Biedl Syndrome / Mutation Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Arch Ophthalmol Year: 2002 Type: Article Affiliation country: Norway

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