Article
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Investigative ophthalmology & visual science - 1 May 2009
Littink Karin W, van Genderen Maria M, Collin Rob W J, Roosing Susanne, de Brouwer Arjan P M, Riemslag Frans C C, Venselaar Hanka, Thiadens Alberta A H J, Hoyng Carel B, Rohrschneider Klaus, den Hollander Anneke I, Cremers Frans P M, van den Born L Ingeborgh
Abstract excerpt
PURPOSE: The purpose of this study was to identify the causative gene defect in two siblings with an uncharacterized cone-rod dysfunction and to describe the clinical characteristics. METHODS: Genome-wide homozygosity mapping, with a 250K SNP-array followed by a search for candidate genes, was performed. The patients underwent ophthalmic examination, including elaborate electroretinography. RESULTS: In a Dutch...
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