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ENShprintzen-Goldberg Craniosynostosis Syndrome (SGS)
Alias:
Shprintzen-Goldberg Syndrome
Marfanoid Craniosynostosis Syndrome
Sgs
Craniosynostosis with Arachnodactyly and Abdominal Hernias
Marfanoid Disorder with Craniosynostosis, Type I
Marfanoid Disorder with Craniosynostosis Type I
Marfanoid-Craniosynostosis Syndrome
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Shprintzen-Goldberg Craniosynostosis Syndrome, also known as shprintzen-goldberg syndrome, is related to craniosynostosis and marfan 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 and skeletal muscle, and related phenotypes are intellectual disability and hypotonia
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