Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

PURPOSE: A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs). METHODS: Two hundred one unre...

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發表在:Genet Med
Main Authors: Lenassi, Eva, Clayton-Smith, Jill, Douzgou, Sofia, Ramsden, Simon C., Ingram, Stuart, Hall, Georgina, Hardcastle, Claire L., Fletcher, Tracy A., Taylor, Rachel L., Ellingford, Jamie M., Newman, William D., Fenerty, Cecilia, Sharma, Vinod, Lloyd, I. Chris, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C., Sergouniotis, Panagiotis I.
格式: Artigo
語言:Inglês
出版: Nature Publishing Group US 2019
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7118019/
https://ncbi.nlm.nih.gov/pubmed/31848469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0722-8
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