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Published on: January 4, 2017
Genetic defects in the development of the skull vault in humans and mice
Pieter Verdyck1, Wim Wuyts, Wim Van Hul
1Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Abstract:
Using a genetic approach, an increasing number of genes has been shown to be important for proper skull vault development. In this review, we discuss the genes involved in disorders of the dermal skull vault in humans, including craniosynostosis and skull ossification defects, and supplement this with data from transgenic and knockout mouse models. These studies have shown the importance of signaling mediated by fibroblast growth factors (FGFs), bone morphogenic proteins (BMPs), and transforming growth factor (TGF)-beta. In addition, some insights into the disease mechanisms leading to skull vault disorders are beginning to be discovered.
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