Article
Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma.
Indian journal of ophthalmology - 1 Oct 2021
Gupta Viney, Somarajan Bindu I, Kaur Gagandeep, Gupta Shikha, Singh Renu, Pradhan Dibyabhaba, Singh Harpreet, Kaur Punit, Sharma Anshul, Chawla Bindia, Pahuja Anisha, Ramachandran Rajesh, Sharma Arundhati
Abstract excerpt
PURPOSE: To report the association of procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 (PLOD2) mutations with bilateral primary congenital glaucoma (PCG) in monozygotic twins and with nondominant juvenile-onset primary open-angle glaucoma (JOAG). METHODS: We utilized family-based whole-exome sequencing to detect disease-causing mutations in a pair of monozygotic twins with de-novo PCG and compared its existence...
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