Article

Analysis of a Homozygous TGFBI Variant in a Pakistani Family with Granular Corneal Dystrophy Type 2: Implications for Genotype-Phenotype Correlation and Inheritance Patterns

2023-03-27

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Granular Corneal Dystrophy Type 2 (GCD2) is an inherited condition characterized by snowflake-shaped opacities in the cornea. The disorder is caused by mutations in the <italic>TGFBI</italic> gene, which encodes keratoepithelin. The objective of this study was to examine the inherited factors associated with GCD2 in two consanguineous Pakistani families. <bold>M...

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Literature Corpus work: b2b0bcec-cd0b-5546-a386-de8f2fa8354d
DOI: 10.21203/rs.3.rs-2713586/v1

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Analysis of a Homozygous TGFBI Variant in a Pakistani Family with Granular Corneal Dystrophy Type 2: Implications for Genotype-Phenotype Correlation and Inheritance PatternsDOI 10.21203/rs.3.rs-2713586/v1Read

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