Article
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Investigative ophthalmology & visual science - 24 Jul 2012
Chandra Aman, Aragon-Martin Jose A, Hughes Kathryn, Gati Sabiha, Reddy M Ashwin, Deshpande Charu, Cormack Graham, Child Anne H, Charteris David G, Arno Gavin
Abstract excerpt
PURPOSE: To describe the genotype-phenotype relationship of a cohort of consecutive patients with isolated ectopia lentis (EL) secondary to ADAMTSL4 and FBN1 mutations. METHODS: Patients underwent detailed ocular, cardiovascular, and skeletal examination. This was correlated with Sanger sequencing of ADAMTSL4 and FBN1 genes. RESULTS: Seventeen patients were examined, including one with ectopia lentis et pupillae....
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