Article
Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.
Investigative ophthalmology & visual science - 1 May 2001
Tzekov R T, Liu Y, Sohocki M M, Zack D J, Daiger S P, Heckenlively J R, Birch D G
Abstract excerpt
PURPOSE: To define the phenotypic expression of a deletion in the gene encoding the transcription factor CRX in a large, seven-generation, white family. METHODS: Fourteen affected individuals, all heterozygous for the Leu146del12 mutation in the cone-rod homeobox gene (CRX), and four nonaffected relatives from the same family were examined with visual function tests, and 10 underwent bone mineral density (BMD)...
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