Article
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
European journal of human genetics : EJHG - 1 Jan 1996
Pulleyn L J, Reardon W, Wilkes D, Rutland P, Jones B M, Hayward R, Hall C M, Brueton L, Chun N, Lammer E, Malcolm S, Winter R M
Abstract excerpt
The causative relationship between several of the syndromic forms of craniosynostosis and mutations in the fibroblast growth factor receptor (FGFR) loci is now well established. However, within the group of patients with craniosynostosis, there are several families and sporadic cases whose clinical features differ in variable degrees from the classically described syndromes of craniosynostosis. In this...
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