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Fragile X Syndrome in children

Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities. The ph...

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Detalles Bibliográficos
Autores principales: Acero-Garcés, David O., Saldarriaga, Wilmar, Cabal-Herrera, Ana M., Rojas, Christian A., Hagerman, Randi J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Universidad del Valle 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469670/
https://www.ncbi.nlm.nih.gov/pubmed/37664646
http://dx.doi.org/10.25100/cm.v54i2.5089

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