Wilkie A O, Wall S A
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
Curr Opin Neurol. 1996 Apr;9(2):146-52.
The identification in craniosynostosis syndromes of mutations in genes belonging to the fibroblast growth factor signalling pathway and the transcriptional regulator MSX2 provides important clues to the pathogenesis of these disorders. Although surgery continues to be the mainstay of treatment, new animal models and improved uncerstanding of cranial suture biology and pathology may lead to complementary therapies.
在颅缝早闭综合征中,鉴定出属于成纤维细胞生长因子信号通路的基因和转录调节因子MSX2中的突变,为这些疾病的发病机制提供了重要线索。尽管手术仍然是主要的治疗方法,但新的动物模型以及对颅缝生物学和病理学的深入了解可能会带来辅助治疗方法。