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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Indian J Ophthalmol
Päätekijät: Kumawat, Babu Lal, Gupta, Ranjan, Sharma, Arundhati, Sen, Seema, Gupta, Shikha, Tandon, Radhika
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Medknow Publications & Media Pvt Ltd 2016
Aiheet:
Linkit: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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