Ellis-van Creveld Syndrome

Disorder

• Name: Ellis-van Creveld Syndrome
• Category: Mendelian
• Existing deep-research providers: falcon
• Existing evidence reference count in YAML: 35

Key Pathophysiology Nodes

• Hedgehog Signaling Disruption
• Primary Cilium Dysfunction
• Cardiac Septation Defect
• Deep research literature mapping

Citation Inventory (for evidence mapping)

• DOI:10.1002/humu.24112
• DOI:10.1016/j.devcel.2012.07.004
• DOI:10.1093/hmg/dds409
• DOI:10.1093/hmg/ddv152
• DOI:10.1111/cge.13375
• DOI:10.3389/fcell.2023.1190258
• DOI:10.3390/genes12071047
• DOI:10.3390/jdb8040025