Article
Changes in insulin-like growth factor signaling alter phenotypes in Fragile X Mice.
Genes, brain, and behavior - 1 Feb 2017
Wise T L
Abstract excerpt
Fragile X syndrome (FXS) is an inherited form of intellectual disability that is usually caused by expansion of a polymorphic CGG repeat in the 5' untranslated region of the X-linked FMR1 gene, which leads to hypermethylation and transcriptional silencing. Two non-neurological phenotypes of FXS are enlarged testes and connective tissue dysplasia, which could be caused by alterations in a growth factor signaling...
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