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Senior-Loken Syndrome: From Human Genetics to an Animal Model

HomeRetina and Vitreous / Retinal Degenerations Associated with Systemic Disease

Title:  Senior-Loken Syndrome: From Human Genetics to an Animal Model
Author:  Nikko Ronquilo
Date:  02/13/2013
Keywords/Main Subjects: Senior-Loken Syndrome; Medullary cystic kidney disease; Retinitis pigmentosa; Photoreceptor degeneration; Nyctalopia; NPHP5
Secondary CORE Category:  Retina and Vitreous / Hereditary and Choroidal Dystrophies
Diagnosis: Senior-Loken Syndrome
Brief Description: This is a research presentation of the development of a mouse model of Senior-Loken syndrome. A review of the pathogenesis, genetics, and clinical features of Senior-Loken syndrome in humans is presented. Discussion of the primary cilium and its potential role in Senior-Loken syndrome is undertaken. The production and characterization of NPHP5 knockout mice is described.
Format: video
Series: Moran Eye Center Grand Rounds
References:
Identifier: Moran_CORE_15221
Copyright statement: Copyright 2015. Please see terms of use page for more information.