Associated features in females with an FMR1 premutation

Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medic...

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Bibliographische Detailangaben
Hauptverfasser: Wheeler, Anne C, Bailey Jr, Donald B, Berry-Kravis, Elizabeth, Greenberg, Jan, Losh, Molly, Mailick, Marsha, Milà, Montserrat, Olichney, John M, Rodriguez-Revenga, Laia, Sherman, Stephanie, Smith, Leann, Summers, Scott, Yang, Jin-Chen, Hagerman, Randi
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2014
Schlagworte:
Review
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121434/
https://ncbi.nlm.nih.gov/pubmed/25097672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1866-1955-6-30
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