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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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Review
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

Internet

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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