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

P. J. Anderson; D. J. Netherway; T. C. Cox; T. Roscioli; D. J. David

doi:10.1097/01.scs.0000169000.58376.0f

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

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

Research output: Contribution to journal › Article › peer-review

2 Citations (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 language	English
Pages (from-to)	166-172
Number of pages	7
Journal	Journal of Craniofacial Surgery
Volume	17
Issue number	1
DOIs	https://doi.org/10.1097/01.scs.0000169000.58376.0f
Publication status	Published or Issued - Jan 2006
Externally published	Yes

Keywords

Apert
Craniosynostosis
Crouzon
Mutation
Pfeiffer

ASJC Scopus subject areas

Surgery
Otorhinolaryngology

Access to Document

10.1097/01.scs.0000169000.58376.0f

Cite this

@article{7ac3ba4a35ea432398eeaec74ad4f7f4,

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

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.",

keywords = "Apert, Craniosynostosis, Crouzon, Mutation, Pfeiffer",

author = "Anderson, {P. J.} and Netherway, {D. J.} and Cox, {T. C.} and T. Roscioli and David, {D. J.}",

year = "2006",

month = jan,

doi = "10.1097/01.scs.0000169000.58376.0f",

language = "English",

volume = "17",

pages = "166--172",

journal = "Journal of Craniofacial Surgery",

issn = "1049-2275",