Article
Raising Knowledge and Awareness of Fragile X Syndrome in Serbia, Georgia, and Colombia: A Model for Other Developing Countries?
The Yale journal of biology and medicine - 1 Dec 2021
Protic Dragana, Salcedo-Arellano Maria Jimena, Stojkovic Maja, Saldarriaga Wilmar, Ávila Vidal Laura Alejandra, Miller Robert M, Tabatadze Nazi, Peric Marina, Hagerman Randi, Budimirovic Dejan B
Abstract excerpt
Fragile X syndrome is the most common monogenetic cause of inherited intellectual disability and syndromic autism spectrum disorder. Fragile X syndrome is caused by an expansion (full mutation ≥200 CGGs repeats, normal 10-45 CGGs) of the fragile X mental retardation 1 (FMR1) gene, epigenetic silencing of the gene, which leads to reduction or lack of the gene's product: the fragile X mental retardation protein. In...
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