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A case of partial 5q trisomy associated with partial 7q monosomy.
A 1-year-old girl with partial 5q trisomy and partial 7q monosomy had ocular abnormalities that included bilateral blepharoptosis and Leber's congenital amaurosis. A single bright-flash electroretinogram (dark-adapted, white stimulation) disclosed subnormal bilateral responses. Her maculas show...
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| 出版年: | Br J Ophthalmol |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
1986
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1040786/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3741831/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/bjo.70.8.630 |
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