Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum
Author:
Affiliation:
1. Department of Neurosurgery; Ghent University Hospital; Ghent Belgium
2. Center for Medical Genetics; Ghent University Hospital; Ghent Belgium
3. Department of Pediatrics; Jan Palfijn Hospital; Ghent Belgium
Funder
The Ghent University
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36077/fullpdf
Reference21 articles.
1. Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication;Bernardini;Am J Med Genet Part A,2007
2. Bernier V Ghassibé M Boon LM Vikkula M 2004
3. International craniosynostosis consortium. Genetic analysis of non-syndromic craniosynostosis;Boyadjiev;Orthod Craniofac Res,2007
4. MSX2 copy number increase and craniosynostosis: Copy number variation detected by array comparative genomic hybridization;de Oliveira Pelegrino;Clinics (Sao Paulo),2012
5. A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance;Everett;Cleft Palate Craniofac J,1999
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