Loeys-Dietz Syndrome

Disorder

• Name: Loeys-Dietz Syndrome
• Category: Mendelian
• Existing deep-research providers: falcon
• Existing evidence reference count in YAML: 40

Key Pathophysiology Nodes

• Paradoxical TGF-beta Signaling
• Noncanonical MAPK Pathway Activation
• Extracellular Matrix Degradation
• Skeletal Development Disruption
• Immune Dysregulation
• Deep research literature mapping

Citation Inventory (for evidence mapping)

• DOI:10.1016/j.heliyon.2025.e42116
• DOI:10.1038/s41431-022-01279-4
• DOI:10.1038/s44161-024-00562-5
• DOI:10.1101/2025.10.01.679917
• DOI:10.26068/mhhrpm/20240429-000
• DOI:10.3389/fcell.2025.1580274
• DOI:10.3390/diseases12110264
• DOI:10.53941/ijddp.2024.100003
• DOI:10.63028/10067/2079210151162165141