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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121434/ https://www.ncbi.nlm.nih.gov/pubmed/25097672 http://dx.doi.org/10.1186/1866-1955-6-30 |
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