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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
Version:
Accepted Manuscript

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Publisher copy:
10.1097/MOP.0000000000000542

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Department:
Pembroke College
Role:
Author
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Grant:
Investigator Award
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Grant:
NIHR Oxford Biomedical Research Centre
National Institutes of Health More from this funder
Action Medical Research. More from this funder
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
Pubs id:
pubs:703093
URN:
uri:caa9111b-60f6-4a16-a83c-3b1442db3f1c
UUID:
uuid:caa9111b-60f6-4a16-a83c-3b1442db3f1c
Local pid:
pubs:703093
Paper number:
6

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