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Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

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

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.
OriginalsprogDansk
ArtikelnummerV02140099
TidsskriftUgeskrift for Laeger
Vol/bind176
Udgave nummer26
Sider (fra-til)2-6
Antal sider5
ISSN0041-5782
StatusUdgivet - 23 jun. 2014

ID: 137201363