Novel mutation detection in craniosynostosis promotes characterization, identification, gene expression, tissue engineering and helps clinical practice and translational research.

Abstract excerpt

INTRODUCTION: Craniosynostosis (CS) syndrome is an autosomal dominant condition (ADC) classically combining with CS and nonsyndromic CS (NSCS) including digital anomalies of the hands and feet. The majority of cases caused by a heterozygous mutation (HM) in the third immunoglobulin-like domain (IgIII) of fibroblast growth factor receptor (FGFR) 2 mutations outside this region of the protein. MATERIAL AND METHODS:...

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