Article
Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.
Investigative ophthalmology & visual science - 1 Dec 2015
Karolak Justyna A, Rydzanicz Malgorzata, Ginter-Matuszewska Barbara, Pitarque Jose A, Molinari Andrea, Bejjani Bassem A, Gajecka Marzena
Abstract excerpt
PURPOSE: Keratoconus (KTCN) is a degenerative disorder of the eye that is characterized by a conical shape and thinning of the cornea, resulting in impaired visual function. Previously, we identified heterozygous single base-pair substitutions in DOCK9, IPO5, and STK24, showing concurrent 100% segregation with the affected phenotype in an Ecuadorian family. As the pathogenic consequences of these variants were...
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