Craniosynostosis - Clinical Practice to Basic Science —— Special Topic Issue: Molecular Syndromology 2019, Vol. 10, No. 1-2

----- 颅骨缝骨病基础科学临床实践

ISBN: 9783318064940 出版年：2019 页码：136 S.Karger

Over the last few decades, the discovery of more than 50 genes causing craniosynostosis has helped to clarify the pathophysiology of the disease, which, in turn, has led to improved clinical care. At the same time, detailed studies of the biological function of genes and proteins associated with craniosynostosis have significantly advanced our understanding of its pathogenesis. This publication includes both review and original research articles that describe the current state regarding clinical practice, genetic diagnosis, and associated underlying pathogenesis of the disease. Together they highlight the latest and most significant developments in the field. In addition to an update on the genetic causes and structural genome variations related to craniosynostosis, the publication goes on to review an animal model and a computational modelling method, as well as introduce current approaches in molecular and pharmacological therapies. This publication will interest experts in the field, as well as attract new researchers, bringing novel ideas and impetus to this enthralling aspect of craniofacial malformation.