Laddar...
Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder w...
Sparad:
| I publikationen: | Iran J Med Sci |
|---|---|
| Huvudupphovsmän: | , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Iranian Journal of Medical Sciences
2018
|
| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5936857/ https://ncbi.nlm.nih.gov/pubmed/29749994 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|