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  • Title: Clinical aspects of the fragile X syndrome.
    Author: Brown WT.
    Journal: Results Probl Cell Differ; 2012; 54():273-9. PubMed ID: 22009358.
    Abstract:
    Fragile X syndrome patients express a wide array of cognitive and other gender-specific phenotypic features. These manifestations result not only from molecular mechanisms that are altered as a result of the expansion of a CGG-repeat region in the FMR1 promoter, but also genetic factors such as founder effects and mosaicism. In this chapter, I will summarize the many and varied features of fragile X syndrome as they present themselves in a clinical setting and describe the procedures that are used to diagnose patients. Finally, I will briefly touch on recent developments that will affect patient screening in the future.
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