Do craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?

Peter Anderson, D. J. Netherway, T. C. Cox, T. Roscioli, D. J. David

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

We present three cases with both FGFR2 mutations and novel TWIST sequence variants. The clinical outcome in this cohort is compared with that in individuals with a single mutation.

Original languageEnglish
Pages (from-to)166-172
Number of pages7
JournalJournal of Craniofacial Surgery
Volume17
Issue number1
DOIs
Publication statusPublished or Issued - 1 Jan 2006
Externally publishedYes

Keywords

  • Apert
  • Craniosynostosis
  • Crouzon
  • Mutation
  • Pfeiffer

ASJC Scopus subject areas

  • Surgery
  • Otorhinolaryngology

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