Associated Papers
Peripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization.
Zhang W et al.
American Journal of 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_S2_.xlsx › Sheet1
Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.
Huang Y et al.
Annals of Translational Medicine, 2021
CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.
Safari I et al.
International Ophthalmology, 2020
A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.
Zhang J et al.
Aging, 2019
Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.
Zhang J et al.
Frontiers in Genetics, 2019
Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy.
Patel DA et al.
Cornea, 2011
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.
Liu Z et al.
Cornea, 2010
[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].
Qi YH et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2010
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.
Gruenauer-Kloevekorn C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2008
[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].
Tian X et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy.
Ha NT et al.
Investigative Ophthalmology & Visual Science, 2003
Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations.
Ha NT et al.
Cornea, 2003
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