Genetic Causes of Craniosynostosis: An Update.
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ABSTRACT:
SUBMITTER: Goos JAC
PROVIDER: S-EPMC6422124 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Publications
Genetic Causes of Craniosynostosis: An Update.
Goos Jacqueline A C JAC Mathijssen Irene M J IMJ
Molecular syndromology 20180815 1-2
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 fol ...[more]
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