Wird geladen...
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...
Gespeichert in:
| Veröffentlicht in: | Ann Transl Med |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
AME Publishing Company
2021
|
| Schlagworte: | |
| Online Zugang: | 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 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|