Article
Surgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome.
The Journal of craniofacial surgery - 1 Jan 2000
Lai Chenzhi, Pan Bo, Song Guodong, Zong Xianlei, Qi Zuoliang, Jin Xiaolei
Abstract excerpt
ABSTRACT: Crouzon syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with variants in fibroblast growth factor receptor 2. Here the authors described a Crouzon syndrome case, which was asked for surgery treatment for the symptom of multisuture craniosynostosis. Mild midfacial retrusion, larger head circumference,...
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