1 Humanities positions at Università degli Studi di Brescia in Italy

Emerging role of digenic or pseudo-digenic inheritance models in Mendelian diseases: implication of hypomorphic variants in Noonan syndrome’s pathogenetic mechanisms and in RAS pathway deregulation

families within the genes LRP1 and SOS1 (Family 1) and RAF1 and SOS1 (Family 2), and involves analyses on cellular and animal models, as well as "Omics" investigations. RNA corresponding to the human alleles