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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 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 ...
Medshine Discovery Inc. has patented selenium-containing compounds acting as tyrosine-protein phosphatase non-receptor type 11 (PTPN11) inhibitors reported to be useful for the treatment of cancer.
Specifically, mutations in the RUNX1 and PTPN11 genes have been detected in ... bluebird bio also assessed if there was any disruption to normal gene regulation or gene expression in and around ...
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.