Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample

PURPOSE: Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains underdiagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X...

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Udgivet i:Genet Med
Main Authors: Movaghar, Arezoo, Page, David, Scholze, Danielle, Hong, Jinkuk, DaWalt, Leann Smith, Kuusisto, Finn, Stewart, Ron, Brilliant, Murray, Mailick, Marsha
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group US 2021
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8257481/
https://ncbi.nlm.nih.gov/pubmed/33772223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-021-01144-7
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