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
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Souzeau E et al.
Molecular Genetics & Genomic Medicine, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14
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
Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature.
Shields M et al.
Ophthalmic Genetics, 2020
A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.
Zhang J et al.
Aging, 2019
[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
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy.
Birgani SA et al.
Molecular Vision, 2009
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.
Aldave AJ et al.
American Journal of Ophthalmology, 2004
Novel mutations in the CHST6 gene causing macular corneal dystrophy.
Abbruzzese C et al.
Clinical Genetics, 2004
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.
Niel F et al.
Investigative Ophthalmology & Visual Science, 2003
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