Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Author:

Halford Stephanie,Liew Gerald,Mackay Donna S.,Sergouniotis Panagiotis I.,Holt Richard,Broadgate Suzanne,Volpi Emanuela V.,Ocaka Louise,Robson Anthony G.,Holder Graham E.,Moore Anthony T.,Michaelides Michel,Webster Andrew R.

Publisher

Elsevier BV

Subject

Ophthalmology

Reference44 articles.

1. Okialda KA, Stover NB, Weleber RG, Kelly EJ. Bietti crystalline dystrophy. 1993. In: Pagon RA, Adam MP, Bird TD, et al, eds. Gene Reviews [database online]. Available at: http://www.ncbi.nlm.nih.gov/books/NBK91457/. Accessed August 1, 2013.

2. Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35;Jiao;Am J Hum Genet,2000

3. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2;Li;Am J Hum Genet,2004

4. Outer retinal circular structures in patients with Bietti crystalline retinopathy;Kojima;Br J Ophthalmol,2012

5. Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations;Lee;Invest Ophthalmol Vis Sci,2005

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