Disorder
- Name: Noonan Syndrome
- Category: Genetic
- Existing deep-research providers: falcon
- Existing evidence reference count in YAML: 31
Key Pathophysiology Nodes
- SHP2 Gain-of-Function Activation
- SOS1-Mediated RAS-GTP Loading
- RAF1 Kinase Hyperactivation
- RIT1-Mediated RAF Recruitment
- LZTR1-Mediated RAS Proteostasis Defect
- ERK Cascade Hyperactivation
- Cardiac Valve Morphogenesis Defects
- Cardiomyocyte Hypertrophy
- Deep research literature mapping
Citation Inventory (for evidence mapping)
- DOI:10.1007/s00431-023-05263-y
- DOI:10.1007/s10557-022-07324-0
- DOI:10.1016/j.jacc.2019.01.066
- DOI:10.1126/sciadv.adf4766
- DOI:10.1158/1078-0432.ccr-24-1611
- DOI:10.1172/jci.insight.182382
- DOI:10.1172/jci172839
- DOI:10.3389/fped.2025.1475143
- DOI:10.3390/children11111342
- DOI:10.3390/genes15081015
- DOI:10.3390/ijms26083515
- DOI:10.3390/life14060731