Article
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
Plastic and reconstructive surgery - 1 Jun 2005
de Heer Inge Marieke, de Klein Annelies, van den Ouweland Ans M, Vermeij-Keers Christl, Wouters Cokkie H, Vaandrager Jan Michiel, Hovius Steven E R, Hoogeboom Jeannette M
Abstract excerpt
BACKGROUND: Saethre-Chotzen syndrome is a craniosynostosis syndrome further characterized by distinctive facial and limb abnormalities. It shows complete penetrance and variable expressivity and has been linked to the TWIST gene on chromosome 7p21; more than 80 different intragenic mutations and, recently, large deletions have been detected in Saethre-Chotzen patients. The aim of this study was to genetically and...
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