학술논문
Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Document Type
Article
Author
Sharma, Vikram P; Fenwick, Aimée L; Brockop, Mia S; McGowan, Simon J; Goos, Jacqueline AC; Hoogeboom, A Jeannette M; Brady, Angela F; Jeelani, Owase; Lynch, Sally Ann; Mulliken, John B; Murray, Dylan J; Phipps, Julie M; Sweeney, Elizabeth; Tomkins, Susan E; Wilson, Louise C; Bennett, Sophia; Cornall, Richard J; Broxholme, John; Kanapin, Alexander; Donnelly, Peter; Johnson, David; Wall, Steven A; van der Spek, Peter J; Mathijssen, Irene MJ; Maxson, Robert E; Twigg, Stephen RF; Wilkie, Andrew OM
Source
The Lancet; February 2013, Vol. 381 Issue: 6 pS114-S114, 1p
Subject
Language
ISSN
01406736; 1474547X
Abstract
BackgroundCraniosynostosis, the premature fusion of the cranial sutures, is the second most common craniofacial malformation. A genetic aetiology can be identified in about 21% of cases, including mutations of TWIST1that cause Saethre-Chotzen syndrome and are associated with coronal synostosis. By contrast, the cause of non-syndromic craniosynostosis is largely unknown.