Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family

BACKGROUND: Macular corneal dystrophy (MCD), a rare autosomal recessive disorder, is caused by pathogenic mutations in the carbohydrate sulfotransferase 6 gene (CHST6) and is characterized by bilateral progressive stromal clouding and vision loss. Corneal transplantation is often necessary. This stu...

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Vydáno v:Ann Transl Med
Hlavní autoři: Huang, Yanxia, Yuan, Lamei, Cao, Yanna, Tang, Renhong, Xu, Hongbo, Tang, Ziqian, Deng, Hao
Médium: Artigo
Jazyk:Inglês
Vydáno: AME Publishing Company 2021
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8106006/
https://ncbi.nlm.nih.gov/pubmed/33987320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm-20-7178
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