Houge-Janssens Syndrome

Disorder

• Name: Houge-Janssens Syndrome
• Category: Mendelian
• Existing deep-research providers: falcon
• Existing evidence reference count in YAML: 67

Key Pathophysiology Nodes

• PP2A subunit mutations
• Disrupted PP2A holoenzyme assembly and function
• Overactivation of growth-promoting kinase pathways
• Disrupted neuronal development
• Deep research literature mapping

Citation Inventory (for evidence mapping)

• DOI:10.1016/j.jbc.2023.105203
• DOI:10.1093/hmg/ddy049
• DOI:10.1101/2022.11.02.514882
• DOI:10.1212/nxg.0000000000200098
• DOI:10.3389/fgene.2023.1225832
• DOI:10.3390/biomedicines12051092
• DOI:10.3390/brainsci14020179