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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...
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| Publicado no: | Ann Transl Med |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
AME Publishing Company
2021
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| Assuntos: | |
| Acesso em linha: | 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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