ECG and echocardiography were normal. The proband has two brothers ... microsatellite marker derived from intron 2 of the PTPN11 gene. The marker was amplified under standard PCR conditions ...

Noonan syndrome is now known to be a genetically heterogeneous disorder with practically one half of all cases caused by gain-of-function mutations in PTPN11, the gene encoding the SHP-2.

Noonan syndrome is caused by a genetic defect. Scientists have identified four genes involved in the syndrome: PTPN11, SOS1, RAF1, and KRAS. There are two ways you can get this syndrome ...