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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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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
1986
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1040786/ https://ncbi.nlm.nih.gov/pubmed/3741831 |
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