期刊
MOLECULAR SYNDROMOLOGY
卷 10, 期 1-2, 页码 6-23出版社
KARGER
DOI: 10.1159/000492266
关键词
Calvarial suture development; Chromosomal rearrangement; Common craniosynostosis syndromes; Single-gene causes
In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017. (c) 2018 S. Karger AG, Basel
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据