IMPE Abstracts

RASopathies are a group of phenotypically overlapping syndromes caused by mutations that encode molecules of the Ras/MAPK signaling pathway. These disorders include: 1) Noonan syndrome caused by mutations in PTPN11, SOS1, RAF1, KRAS, BRAF and NRAS; 2) Noonan syndrome with multiple lentigines (NSML) caused by mutations in PTPN11, RAF1 and BRAF; 3) Costello syndrome caused by oncogenic mutations in HRAS; 4) cardio-facio-cutaneous (CFC) syndrome caused ...