Article
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
European journal of human genetics : EJHG - 1 Jan 2006
Kress Wolfram, Schropp Christian, Lieb Gabriele, Petersen Birgit, Büsse-Ratzka Maria, Kunz Jürgen, Reinhart Edeltraut, Schäfer Wolf-Dieter, Sold Johanna, Hoppe Florian, Pahnke Jan, Trusen Andreas, Sörensen Niels, Krauss Jürgen, Collmann Hartmut
Abstract excerpt
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 functional features separating SCS from Muenke's syndrome, we screened patients presenting with coronal suture synostosis for mutations in the TWIST 1 gene, and for the...
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