Article
Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis.
Advances in experimental medicine and biology - 1 Jan 2012
De Rubeis Silvia, Fernández Esperanza, Buzzi Andrea, Di Marino Daniele, Bagni Claudia
Abstract excerpt
The Fragile X syndrome (FXS) is the most frequent form of inherited mental retardation and also considered a monogenic cause of Autism Spectrum Disorder. FXS symptoms include neurodevelopmental delay, anxiety, hyperactivity, and autistic-like behavior. The disease is due to mutations or loss of the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein abundant in the brain and gonads, the two organs...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.