Mouse models of Apert syndrome
β Scribed by Holmes, Greg
- Book ID
- 118783254
- Publisher
- Springer
- Year
- 2012
- Tongue
- English
- Weight
- 212 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0256-7040
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Apert and Pfeiffer syndromes are hereditary forms of craniosynostosis characterized by midfacial hypoplasia and malformations of the limbs and skull. A serious consequence of midfacial hypoplasia in these syndromes is respiratory compromise due to airway obstruction. In this study, we have evaluated
Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report docum