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
A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.
Mohammadi A et al.
Iranian Journal of Basic Medical Sciences, 2020
Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients.
Campos-Mollo E et al.
Clinical & Experimental Ophthalmology, 2019
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Kheir V et al.
Human Mutation, 2019
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE et al.
Progress in Retinal and Eye Research, 2016
Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.
Lakshminarayanan R et al.
The Ocular Surface, 2014
A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement.
Kawasaki S et al.
The British Journal of Ophthalmology, 2011
Novel mutation in PANK2 associated with retinal telangiectasis.
Sohn EH et al.
The British Journal of Ophthalmology, 2011
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