Pathology
germline mutations in
- Boston-type craniosynostosis (MIM.604757)
- autosomal dominant enlarged parietal foramina (MIM.168500)
- parietal foramina with cleidocranial dysplasia (MIM.168550)
- myopia and hyperopia
extra copy of MSX2 by trisomy 5q could lead to craniosynostoses (17955513)
References
Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI. Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis. Am J Med Genet A. 2007 Oct 22; PMID: 17955513