[Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders].

@article{Jnch2014CarriersOF,
  title={[Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders].},
  author={Aia Elise J\onch and Karen Gr\onskov and Jytte Merete Carlsen Lunding and J\orgen E. Nielsen and Karen Br\ondum-Nielsen},
  journal={Ugeskrift for laeger},
  year={2014},
  volume={176 26},
  pages={V02140099}
}
Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct disorders caused by expansions of a CGG repeat sequence in the non-coding part of the FMR1. FXTAS and FXPOI are seen in carriers of smaller repeat expansions (55-200). Carriers were for many years thought to be clinically unaffected, but along with the discovery of FXPOI and FXTAS a growing number of additional clinical… CONTINUE READING