Article
An explanation of the mechanisms underlying fragile X-associated premature ovarian insufficiency.
Journal of assisted reproduction and genetics - 1 Jun 2020
Rose Bruce I, Brown Samuel E
Abstract excerpt
Fragile X and fragile X-associated tremor-ataxia syndrome (FXTAS) are caused by mutations of the FMR1 gene. The mutations causing FXTAS can expand in a generation to a "full mutation" causing fragile X syndrome. The mutations causing FXTAS and the phenotype, fragile X-associated premature ovarian insufficiency (FXPOI), are referred to as the FMR1 premutation (PM). The objective of this paper was to formulate a...
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