Article
Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice.
Human molecular genetics - 1 Feb 2002
Bérubé Nathalie G, Jagla Magdalena, Smeenk Cecelia, De Repentigny Yves, Kothary Rashmi, Picketts David J
Abstract excerpt
Several X-linked mental retardation syndromes are caused by mutations in the ATRX gene. Common clinical features associated with ATRX mutations include severe mental retardation, characteristic facial anomalies and variable degrees of urogenital defects and alpha-thalassemia. Although the ATRX protein is a member of the SWI/SNF family of chromatin remodeling proteins, little is known about the biochemical...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.