Article
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Investigative ophthalmology & visual science - 1 Sept 2016
Arno Gavin, Hull Sarah, Carss Keren, Dev-Borman Arundhati, Chakarova Christina, Bujakowska Kinga, van den Born L Ingeborgh, Robson Anthony G, Holder Graham E, Michaelides Michel, Cremers Frans P M, Pierce Eric, Raymond F Lucy, Moore Anthony T, Webster Andrew R
Abstract excerpt
PURPOSE: Mutation of RGR, encoding retinal G-protein coupled receptor was originally reported in association with retinal dystrophy in 1999. A single convincing recessive variant segregated perfectly in one family of five affected and two unaffected siblings. At least one further individual, homozygous for the same variant has since been reported. The aim of this report was to reevaluate the findings in...
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