Associated Papers
A novel GRHL2 nonsense variant impairs auditory function via a gain-of-function mechanism in autosomal dominant hearing loss.
Ma Y et al.
Acta Oto-laryngologica, 2026
Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights.
Liskova P et al.
Clinical & Experimental Ophthalmology, 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
Update on the genetics of corneal endothelial dystrophies.
Kannabiran C et al.
Indian Journal of Ophthalmology, 2022
c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.
Janeschitz-Kriegl L et al.
Cornea, 2022
Diseases of the corneal endothelium.
Jeang LJ et al.
Experimental Eye Research, 2021
Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature.
Trebusak Podkrajsek K et al.
Genes, 2021
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Liskova P et al.
American Journal of Human Genetics, 2018
Molecular genetics of cataract.
Kannabiran C et al.
Indian Journal of Ophthalmology, 2000
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