Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

• 1 August 2005
• journal article
• case report
• Published by BMJ in Journal of Medical Genetics
• Vol. 42  (8) , 656-662
• https://doi.org/10.1136/jmg.2004.027888

Abstract

Keywords

• FGFR2
• CRANIOSYNOSTOSIS
• MUTATION
• TYROSINE KINASE