Article
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.
Genes - 26 Mar 2020
Thanikachalam Saradadevi, Hodapp Elizabeth, Chang Ta C, Swols Dayna Morel, Cengiz Filiz B, Guo Shengru, Zafeer Mohammad F, Seyhan Serhat, Bademci Guney, Scott William K, Grajewski Alana, Tekin Mustafa
Abstract excerpt
Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of other organs. To identify disease-causing variants, we performed exome sequencing in 24 South Florida families with ASD. We identified 12 likely causative variants in 10 families (42%), including single nucleotide or small insertion-deletion...
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