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    Timing of the absence of FMR1 expression in full mutation chorionic villi

    Fragile X syndrome is caused by the expansion of the CGG repeat in the 5' untranslated region of the FMR1 gene. This expansion leads to methylation of the FMR1 promoter region thereby blocking FMR1 protein (FMRP...

    Rob Willemsen, Carola J. Bontekoe, Lies-Anne Severijnen, Ben A. Oostra in Human Genetics (2002)