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Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing
Infantile nystagmus (IN) is a genetically heterogeneous disorder arising from variants of genes expressed within the developing retina and brain. IN presents a diagnostic challenge and patients often undergo numerous investigations. We aimed to develop and assess the utility of a next-generation seq...
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| 出版年: | Eur J Hum Genet |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5477371/ https://ncbi.nlm.nih.gov/pubmed/28378818 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.44 |
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