Article
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
American journal of medical genetics. Part A - 1 Dec 2011
Barroso Eva, Pérez-Carrizosa Virginia, García-Recuero Ignacio, Glucksman Marc J, Wilkie Andrew O, García-Minaur Sixto, Heath Karen E
Abstract excerpt
Craniosynostosis is the premature fusion of one or more sutures of the skull, which can be syndromic or isolated. Mutations in FGFR1, FGFR2, or FGFR3, among others, are often responsible for these syndromic cases. The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and...
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