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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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Ann Transl Med |
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| Prif Awduron: | , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
AME Publishing Company
2021
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| Pynciau: | |
| Mynediad Ar-lein: | 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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