Germline activating mutations of the protein tyrosine phosphatase SHP2 (encoded by PTPN11) positively regulate Ras signalling in 50% of Noonan syndrome patients, who have an increased risk of developing juvenile myelomonocytic leukaemia (JMML), a childhood myeloproliferative neoplasm (MPN). Here, PTPN11 is linked to Noonan syndrome.