Condition: Corneal dystrophy


rs1554579819 in GRHL2;LOC107986961;LOC107986962 gene and Corneal dystrophy PMID 29499165 2018 Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

rs1554579878 in LOC107986961;LOC107986962;GRHL2 gene and Corneal dystrophy PMID 29499165 2018 Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

rs1554579832 in LOC107986962;GRHL2;LOC107986961 gene and Corneal dystrophy PMID 29499165 2018 Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

rs121909212 in TGFBI gene and Corneal dystrophy PMID 11004271 2000 Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.

PMID 21462384 2011 Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

PMID 12400061 2002 Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA.

PMID 23884333 2013 Unilateral Variant of Late-Onset Lattice Corneal Dystrophy With the Pro501Thr Mutation in the TGFBI Gene Without Deposits in the Unaffected Cornea Using Confocal Microscopy.

PMID 9497262 1998 A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.

PMID 16809844 2006 A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.

PMID 26748743 2016 Mutational spectrum of Korean patients with corneal dystrophy.