Article
Distribution of TGFBI variants in patients with early onset glaucoma.
Molecular vision - 1 Jan 2023
Gupta Viney, Panigrahi Arnav, Somarajan Bindu I, Gupta Shikha, Tripathy Koushik, Singh Abhishek, Sharma Anshul, Tandon Radhika, Pradhan Dibyabhaba, Sharma Arundhati, Kushwaha Tushar, Inampudi Krishna K
Abstract excerpt
Purpose: To describe a novel association of TGFBI variants with congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy) syndrome, as well as among other unrelated cases of juvenile onset open-angle glaucoma (JOAG) and primary congenital glaucoma (PCG). Methods: This study of one family of GAPO with congenital glaucoma and three unrelated patients...
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