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Abnormal retinal development associated with FRMD7 mutations
Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder, often associated with FRMD7 mutations. As the appearance of the retina is reported to be normal based on conventional fundus photography, IIN is postulated to arise from abnormal cortical development. To determine whether...
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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: |
Oxford University Press
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4082370/ https://ncbi.nlm.nih.gov/pubmed/24688117 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu122 |
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