Shprintzen-Goldberg Syndrome

About the Disease
Shprintzen-Goldberg Craniosynostosis Syndrome, also known as shprintzen-goldberg syndrome, is related to craniosynostosis and schinzel-giedion midface retraction syndrome. An important gene associated with Shprintzen-Goldberg Craniosynostosis Syndrome is SKI (SKI Proto-Oncogene), and among its related pathways/superpathways are Signaling by TGFB family members and TGF-beta receptor signaling in skeletal dysplasias. Affiliated tissues include bone, skeletal muscle and heart, and related phenotypes are intellectual disability and hypertelorism

Common Targets
SKI | FBN1 | KIFBP

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