Associated Papers
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S2_.xlsx › Sheet1
Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.
Jun I et al.
Scientific Reports, 2021
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Kheir V et al.
Human Mutation, 2019
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.
Ann LB et al.
The British Journal of Ophthalmology, 2017
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