| Autor: |
Zohra, Chibani, Imen Zone, Abid, Peter, Söderkvist, Jamel, Feki, Mounira Hmani, Aifa |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
The British journal of ophthalmology. 106(2) |
| ISSN: |
1468-2079 |
| Popis: |
Autosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation. CHED is known to be caused by mutations in the solute carrier family 4 member 11 (To identifyA novel deletionTo the best of our knowledge, this is the first clinical and genetic study exploring CHED in Tunisia. The present work also expands the list of pathogenic genotypes in SLC4A11 gene and its associated clinical diagnosis giving more insights into genotype-phenotype correlations. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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