Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
TCF12基因突变是冠状缝早闭的常见病因,该基因编码TWIST1的基本螺旋-环-螺旋结构域。
期刊:Nature Genetics
影响因子:29
doi:10.1038/ng.2531
Sharma, Vikram P; Fenwick, Aimée L; Brockop, Mia S; McGowan, Simon J; Goos, Jacqueline A C; Hoogeboom, A Jeannette M; Brady, Angela F; Jeelani, Nu 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; Johnson, David; Wall, Steven A; van der Spek, Peter J; Mathijssen, Irene M J; Maxson, Robert E; Twigg, Stephen R F; Wilkie, Andrew O M