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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Indian J Ophthalmol
मुख्य लेखकों: Kumawat, Babu Lal, Gupta, Ranjan, Sharma, Arundhati, Sen, Seema, Gupta, Shikha, Tandon, Radhika
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Medknow Publications & Media Pvt Ltd 2016
विषय:
ऑनलाइन पहुंच: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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