Cole-Carpenter Syndrome

Cole-Carpenter Syndrome, also known as cole carpenter syndrome, is related to osteogenesis imperfecta, type vii and scoliosis. An important gene associated with Cole-Carpenter Syndrome is SEC24D (SEC24 Homolog D, COPII Coat Complex Component), and among its related pathways/superpathways are Collagen chain trimerization and Chks in Checkpoint Regulation. Affiliated tissues include bone and eye, and related phenotypes are frontal bossing and skeletal dysplasia