Journal article
Clinical genetics of craniosynostosis
- Abstract:
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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
- Version:
- Accepted Manuscript
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(pdf, 200.8KB)
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(tiff, 86.9KB)
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(tiff, 139.5KB)
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- Publisher copy:
- 10.1097/MOP.0000000000000542
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Authors
Funding
+ National Institute for Health Research
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Grant:
NIHR Oxford Biomedical Research Centre
National Institutes of Health
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Action Medical Research.
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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:
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1531-698X
- ISSN:
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1040-8703
- Pubs id:
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pubs:703093
- URN:
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uri:caa9111b-60f6-4a16-a83c-3b1442db3f1c
- UUID:
-
uuid:caa9111b-60f6-4a16-a83c-3b1442db3f1c
- Local pid:
- pubs:703093
- Paper number:
- 6
Item Description
- Keywords:
Terms of use
- Copyright holder:
- Wolters Kluwer Health, Inc.
- Copyright date:
- 2017
- Notes:
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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
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