Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer
Research output: Contribution to journal › Journal article › Research › peer-review
Aia Elise Jønch, Karen Grønskov, Jytte Merete Carlsen Lunding, Jørgen E Nielsen, Karen Brøndum-Nielsen
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 manifestations have been identified. We wish to make Danish physicians more aware of these conditions which we review in this paper.
|Journal||Ugeskrift for Laeger|
|Number of pages||5|
|Publication status||Published - 23 Jun 2014|