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MSX2 in Craniosynostosis and Defects of Skull Ossification 

MSX2 in Craniosynostosis and Defects of Skull Ossification
Chapter:
MSX2 in Craniosynostosis and Defects of Skull Ossification
Author(s):

Mamoru Ishii

, Robert Maxson

, and Ulrich Muller

DOI:
10.1093/med/9780199934522.003.0097
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date: 04 March 2021

Mutations in the homeobox gene MSX2 can result in both craniosynostosis (premature fusion of the calvarial sutures) and parietal foramina (PFM) (delayed ossification along the sagittal sutures). Msx2 has major roles in the growth of the mammalian skull vault and the development of the calvarial sutures. A gain-of-function mutation in MSX2 (Pro148His) results in craniosynostosis, while loss-of-function mutations of Msx2 result in PFM.

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