Journal article
Clinical genetics of craniosynostosis
- Abstract:
-
Purpose of review When providing accurate clinical diagnosis and genetic counselling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between. This review will scope out how recent genetic discoveries from next-generation sequencing have impacted on the clinical genetic evaluation of craniosynostosis. Recent findings Survey of a 13-year birth coho... Expand abstract
- Publication status:
- Published
- Peer review status:
- Peer reviewed
Actions
Access Document
- Files:
-
-
(Accepted manuscript, tiff, 139.5KB)
-
(Accepted manuscript, tiff, 86.9KB)
-
(Accepted manuscript, pdf, 200.8KB)
-
- Publisher copy:
- 10.1097/MOP.0000000000000542
Why is the content I wish to access not available via ORA?
Bibliographic data (the information relating to research outputs) and full-text items (e.g. articles, theses, reports, etc.) arrive in ORA from several different sources. Unfortunately we are not able to make available the full-text for every research output.
Please contact the ORA team (
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
Content may be unavailable for the following four reasons
-
Version unsuitable
-
We have not obtained a suitable full-text for a given research output. See this page for more information.
-
Recently completed
-
Sometimes content is held in ORA but is unavailable for a fixed period of time to comply with the policies and wishes of rights holders.
-
Permissions
-
All content made available in ORA should comply with relevant rights, such as copyright. See this page for more information.
-
Clearance
-
Some thesis volumes scanned as part of the digitisation scheme funded by Dr Leonard Polonsky are currently unavailable due to sensitive material or uncleared third-party copyright content. We are attempting to contact authors whose theses are affected.
Alternative access to the full-text
You may be able to access the full-text directly from the publisher's website using the 'Publisher Copy' link in the 'Links & Downloads' box from a research output's ORA record page. This method may require an institutional or individual subscription to the journal/resource.
Authors
Funding
+ National Institute for Health Research
More from this funder
Grant:
NIHR Oxford Biomedical Research Centre
National Institutes of Health
More from this funder
Action Medical Research.
More from this funder
Bibliographic Details
- Publisher:
- Lippincott, Williams & Wilkins Publisher's website
- Journal:
- Current Opinion in Pediatrics Journal website
- Volume:
- 29
- Issue:
- 6
- Pages:
- 622–628
- Publication date:
- 2017-11-08
- Acceptance date:
- 2017-06-27
- DOI:
- EISSN:
-
1531-698X
- ISSN:
-
1040-8703
- Source identifiers:
-
703093
Item Description
- Keywords:
- Pubs id:
-
pubs:703093
- UUID:
-
uuid:caa9111b-60f6-4a16-a83c-3b1442db3f1c
- Local pid:
- pubs:703093
- Deposit date:
- 2017-07-06
Terms of use
- Copyright holder:
- Wolters Kluwer Health, Inc
- Copyright date:
- 2017
- Notes:
- Copyright © 2017 Wolters Kluwer Health, Inc. This is the accepted manuscript version of the article. The final version is available online from Lippincott, Williams & Wilkins at: https://doi.org/10.1097/MOP.0000000000000542
If you are the owner of this record, you can report an update to it here: Report update to this record