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Most cases are caused by CGG expansion in the 5’UTR of FMR1 gene, resulting in transcriptional silencing due to hypermethylation of this region and loss of protein product FMRP.

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1. Most cases are caused by CGG expansion in the 5’UTR of FMR1 gene, resulting in transcriptional silencing due to hypermethylation of this region and loss of protein product FMRP.





 
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