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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...
Autores principales: | Movaghar, Arezoo, Page, David, Scholze, Danielle, Hong, Jinkuk, DaWalt, Leann Smith, Kuusisto, Finn, Stewart, Ron, Brilliant, Murray, Mailick, Marsha |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group US
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257481/ https://www.ncbi.nlm.nih.gov/pubmed/33772223 http://dx.doi.org/10.1038/s41436-021-01144-7 |
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