Further Evidence for the Implication of LZTR1, a Gene not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome

Abstract

Background: Noonan Syndrome (NS) is a relatively common autosomal dominant condition, caused by germline mutations in different genes involved in the RAS MAP Kinase signaling pathway. Although clinically heterogeneous, characteristic findings include typical facial features, short stature, chest deformity and congenital heart diseases.