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Fragile X syndrome

In most cases, fragile X syndrome is caused by a trinucleotide repeat expansion in FMR1, which results in loss of expression of its gene product, fragile X mental retardation 1 protein (FMRP). This PrimeView focuses on the consequences of FMRP loss, including deficits in synpatic plasticity.

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Fragile X syndrome. Nat Rev Dis Primers 3, 17066 (2017). https://doi.org/10.1038/nrdp.2017.66

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