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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer

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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.

Translated title of the contributionCarriers of fragile X syndrome can present with a broad spectrum of clinical disorders.
Original languageDanish
JournalUgeskrift for læger [online]
Volume176
Issue number26
ISSN1603-6824
Publication statusPublished - 23 Jun 2014

ID: 44683129