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The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness

14 Jun 2022

Abstract excerpt

FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially a wide range of additional mental and general health conditions that are not yet well-characterised. The International Fragile X Premutation...

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PMID: 35701103
DOI: 10.1136/jmedgenet-2022-108568

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