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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Vydáno v:Genet Med
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group US 2019
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Article
On-line přístup: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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