PTPN11 and Noonan syndrome: Germline gain of function missense mutations in PTPN11 cause an overlapping but distinct group of dominant disorders with involvement of the face, heart, skeleton, skin and brain, including Noonan syndrome (OMIM 163950), Noonan-like disorder with multiple giant cell lesion syndrome (OMIM 163955) and LEOPARD syndrome (OMIM 151100) [17], [18].