Associated Papers
Case Report of Schnyder Corneal Dystrophy-A Rare Lipid Metabolic Disorder of the Cornea.
Stoyanova N et al.
Life (basel, Switzerland), 2025
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_S4_.xlsx › Sheet1
UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.
Tsuneya M et al.
Japanese Journal of Ophthalmology, 2023
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.
Dong F et al.
Scientific Reports, 2018
Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.
Lin BR et al.
Journal of Ophthalmology, 2016
Phenotype-genotype correlation in patients with Schnyder corneal dystrophy.
Nowinska AK et al.
Cornea, 2014
Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.
Nowińska AK et al.
Molecular Vision, 2011
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