期刊论文详细信息
Frontiers in Pediatrics
Fragile X Premutation Associated Conditions (FXPAC)
article
Kirsten Johnson1  Jonathan Herring2  Jörg Richstein3 
[1] The Fragile X Society, United Kingdom;Faculty of Law, University of Oxford, United Kingdom;Interessengemeinschaft Fragiles-X e.V
关键词: Fragile X;    premutation;    FXTAS;    FXPOI;    FXPAC;   
DOI  :  10.3389/fped.2020.00266
学科分类:社会科学、人文和艺术(综合)
来源: Frontiers
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【 摘 要 】

The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation. To date, there has not been an umbrella term assigned to issues associated with the FMR1 premutation, though several defined conditions which affect some premutation carriers, namely Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), are now commonly accepted. An overarching term covering all FX premutation conditions will help doctors in determining how the premutation might be affecting their patient; and encourage researchers to explore the interrelationships of the various conditions affecting premutation carriers. Further, there are ongoing discoveries about physical and psychological issues faced by premutation carriers, and a new term helps encompass all of these burgeoning developments.

【 授权许可】

CC BY   

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