ba0006p019 | (1) | ICCBH2017
Bluemel Rabea
, Klopocki Eva
, Liedtke Daniel
Objectives: Craniosynostosis is a skeletal birth defect, resulting in premature fusion of cranial sutures. The patency of the sutures is essential to enable the growth of the skull in compliance to the developing brain. Mutations in TWIST1 and TCF12 have been identified in patients with Saethre-Chotzen syndrome, which is typically associated with coronal synostosis. Studies in mouse models suggest that the quantity of TCF12-TWIST1 heterodimers is one critical...