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Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus.
Li X, Bykhovskaya Y, Canedo AL, Haritunians T, Siscovick D, Aldave AJ, Szczotka-Flynn L, Iyengar SK, Rotter JI, Taylor KD, Rabinowitz YS. Li X, et al. Among authors: aldave aj. Invest Ophthalmol Vis Sci. 2013 Apr 12;54(4):2696-704. doi: 10.1167/iovs.13-11601. Invest Ophthalmol Vis Sci. 2013. PMID: 23513063 Free PMC article.
No VSX1 gene mutations associated with keratoconus.
Aldave AJ, Yellore VS, Salem AK, Yoo GL, Rayner SA, Yang H, Tang GY, Piconell Y, Rabinowitz YS. Aldave AJ, et al. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):2820-2. doi: 10.1167/iovs.05-1530. Invest Ophthalmol Vis Sci. 2006. PMID: 16799019
The genetics of the corneal dystrophies.
Aldave AJ. Aldave AJ. Dev Ophthalmol. 2011;48:51-66. doi: 10.1159/000324077. Epub 2011 Apr 26. Dev Ophthalmol. 2011. PMID: 21540631 Review.
215 results