Article
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
Development (Cambridge, England) - 1 May 2014
Bonetti Monica, Paardekooper Overman Jeroen, Tessadori Federico, Noël Emily, Bakkers Jeroen, den Hertog Jeroen
Abstract excerpt
Germline mutations in PTPN11, encoding Shp2, cause Noonan syndrome (NS) and LEOPARD syndrome (LS), two developmental disorders that are characterized by multiple overlapping symptoms. Interestingly, Shp2 catalytic activity is enhanced by NS mutations and reduced by LS mutations. Defective cardiac development is a prominent symptom of both NS and LS, but how the Shp2 variants affect cardiac development is unclear....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.