Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.

Abstract excerpt

PURPOSE: To describe a novel pathogenic TGFBI variant identified in a Greek family and investigate its structural impact on the TGFBI protein, focusing on clinical significance and genotype-phenotype correlations. DESIGN: Single-family case-control study with computational structural analysis. METHODS: Three generations of a Greek family, including the proband, her brother, and their mother were clinically...

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