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Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations
BACKGROUND: Congenital hereditary endothelial dystrophy (CHED) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (edema) present at birth or shortly thereafter. This study reports on an unusual delayed presentation of CHED with compound hete...
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| Publicado no: | Indian J Ophthalmol |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5026072/ https://ncbi.nlm.nih.gov/pubmed/27609159 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0301-4738.190100 |
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