Shprintzen-Goldberg Syndrome

Disorder

• Name: Shprintzen-Goldberg Syndrome
• Category: Mendelian
• Existing deep-research providers: falcon
• Existing evidence reference count in YAML: 21

Key Pathophysiology Nodes

• Enhanced TGF-beta Signaling
• Skeletal Development Disruption
• Deep research literature mapping

Citation Inventory (for evidence mapping)

• DOI:10.1038/ejhg.2014.61
• DOI:10.1038/nature24283
• DOI:10.1038/ng.2421
• DOI:10.1101/2021.02.12.431010
• DOI:10.1136/jmedgenet-2021-107695