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- aggregation classification "A1".
- aggregation creator B510977.
- aggregation creator B510978.
- aggregation creator B510979.
- aggregation creator B510980.
- aggregation creator person.
- aggregation date "2013".
- aggregation format "application/pdf".
- aggregation hasFormat 3170710.bibtex.
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- aggregation isPartOf urn:issn:1381-6810.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations".
- aggregation abstract "Enhanced S-cone syndrome is a rare, slowly progressive autosomal recessively inherited retinal degeneration related to mutations in the NR2E3 gene. Patients often present with night blindness, visual loss and visual field abnormalities. Patients with enhanced S-cone syndrome exhibit a variable clinical phenotype associated with various degrees of pigmentary changes and foveal schisis. We report a 14-month-old boy with an unusual funduscopic appearance. The diagnosis of enhanced S-cone syndrome was suggested by the uniquely abnormal electroretinographic pattern and was confirmed by the finding of homozygous NR2E3 mutations.".
- aggregation authorList BK856744.
- aggregation endPage "108".
- aggregation issue "1-2".
- aggregation startPage "105".
- aggregation volume "34".
- aggregation aggregates 3170721.
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- aggregation similarTo 13816810.2012.726395.
- aggregation similarTo LU-3170710.