Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant multisystem condition with a variable phenotype. The most characteristic features are short stature, congenital heart defects, and recognizable facial features. Mutations in SOS1 are found in 10-20% of patients with NS. Different genotype-phenotype studies mention correlations between SOS1 mutations and some features, such as ectodermal abnormalities and specific...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Genetic Association Studies