synostosis/アルギニン

BACKGROUND Muenke syndrome is a fibroblast growth factor receptor 3 (FGFR-3)-associated coronal craniosynostosis syndrome, which was first described in 1997. METHODS We report an infant girl who was born to a 29-year-old primapara at 38 weeks' gestation. When evaluated at 3 days old, physical

OBJECTIVE A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this

The access of bone morphogenetic protein (BMP) to the BMP receptors on the cell surface is regulated by its antagonist noggin, which binds to heparan-sulfate proteoglycans on the cell surface. Noggin is encoded by NOG and mutations in the gene are associated with aberrant skeletal formation, such as