Article
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
Investigative ophthalmology & visual science - 30 Sept 2014
Hull Sarah, Arno Gavin, Plagnol Vincent, Chamney Sarah, Russell-Eggitt Isabelle, Thompson Dorothy, Ramsden Simon C, Black Graeme C M, Robson Anthony G, Holder Graham E, Moore Anthony T, Webster Andrew R
Abstract excerpt
PURPOSE: To present a detailed phenotypic and molecular study of a series of 18 patients from 11 families with retinal dystrophies consequent on mutations in the cone-rod homeobox (CRX) gene and to report a novel phenotype. METHODS: Families were ascertained from a tertiary clinic in the United Kingdom and enrolled into retinal dystrophy studies investigating the phenotype and molecular basis of inherited retinal...
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