Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr
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 m...
Main Authors: | , , , , , , |
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Format: | Journal article |
Language: | English |
Published: |
2011
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