| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3054125 | European Journal of Paediatric Neurology | 2013 | 4 Pages |
Abstract
Syndromic craniosynostose exhibit variable clinical and genetic heterogeneity. Many of this disorders are caused by mutations in the fibroblast growth factor receptor genes: FGFR2, FGFR3 (encoding fibroblast growth factor receptors), TWIST1 (functions as an upstream regulator of FGFRs) and EFNB1 (gene encoding fibrillin1). However recent advances in molecular genetics have led to a discover of other genes implicated in different craniosynostosis syndromes.
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Authors
Aleksandra Jezela-Stanek, Małgorzata Krajewska-Walasek,