Mutations in RIT1 cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype

Abstract excerpt

RASopathies are a clinically heterogeneous group of conditions caused by mutations in 1 of 16 proteins in the RAS-mitogen activated protein kinase (RAS-MAPK) pathway. Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome. Here we provide additional functional evidence for a causal role of RIT1 mutations and expand the associated phenotypic spectrum. We identified two de novo missense...

Topics

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

• Share to Galectins and Cancer Biology
• Share to Lysosomal Storage Disorders Research
• Share to Protein Tyrosine Phosphatases