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 en:Indian J Ophthalmol
Autores principales: Kumawat, Babu Lal, Gupta, Ranjan, Sharma, Arundhati, Sen, Seema, Gupta, Shikha, Tandon, Radhika
Formato: Artigo
Lenguaje:Inglês
Publicado: Medknow Publications & Media Pvt Ltd 2016
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Original Article
Acceso en línea: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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