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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Hara, S, Yamada, T, Nakai, H, Ohtani, A, Mizuno, K
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 1986
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC1040786/
https://ncbi.nlm.nih.gov/pubmed/3741831
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