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Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
Glaucoma is a heterogeneous group of optic neuropathies that manifests by optic nerve head cupping or degeneration of the optic nerve, resulting in a specific pattern of visual field loss. GlaucomaExpand
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Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist
Purpose To assess whether loci other than GLC3A, GLC3B, and GLC3C are linked to primary congenital glaucoma (PCG). Methods The gene CYP1B1 at GLC3A was screened in 19 Iranian PCG probands who hadExpand
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Association of CTLA4 (rs4553808) and PTPN22 (rs2476601) gene polymorphisms with Hashimoto's thyroiditis disease: A case-control study and an In-silico analysis
Abstract In addition to other factors regarding the disease susceptibility, genetic factors are the main causes of Hashimoto's thyroiditis (HT) disease. CTLA4 and PTPN22 are the most prominent genesExpand