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Autor:
Christian Schropp, Wolf-Dieter Schäfer, Maria Büsse-Ratzka, Andreas Trusen, Niels Sörensen, H. Collmann, Florian Hoppe, Gabriele Lieb, Edeltraut Reinhart, Jürgen Krauss, Jürgen Kunz, Wolfram Kress, Johanna Sold, Birgit Petersen, Jan Pahnke
Publikováno v:
European Journal of Human Genetics. 14:39-48
The Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome with uni- or bilateral coronal synostosis and mild limb deformities. It is caused by loss-of-function mutations of the TWIST 1 gene. In an attempt to delineate func