Article

Compound Heterozygous Mutations in TGFBI Cause a Severe Phenotype of Granular Corneal Dystrophy Type 2

2021-02-15

Abstract excerpt

We investigated the clinical and genetic features of patients with severe phenotype of granular corneal dystrophy type 2 (GCD2) associated with compound heterozygosity in the transforming growth factor-β-induced ( TGFBI ) gene. Patients with severe GCD2 underwent ophthalmic examination (best-corrected visual acuity test, intraocular pressure measurement, slit-lamp examination, and slit-lamp photograph analysis) an...

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Literature Corpus work: 8bd0919f-089f-522e-b274-670678b51029
DOI: 10.21203/rs.3.rs-189647/v1

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