Journal article
De novo mutations in EBF3 cause a neurodevelopmental syndrome
- Abstract:
-
Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report that de novo mutations in EBF3 cause a complex neurodevelopmental syndrome. The mutations were identified in two large-scale sequencing projects: the UK Deciphering Developmental Disorders (DDD) study and the Canadian Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) study. The core phenotype includes mo...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Publisher copy:
- 10.1016/j.ajhg.2016.11.020
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Authors
Funding
+ Victor W. Bolie and Earleen D. Bolie Graduate Scholarship Fund
More from this funder
Funding agency for:
Welsh, S
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Bibliographic Details
- Publisher:
- Elsevier Publisher's website
- Journal:
- American Journal of Human Genetics Journal website
- Volume:
- 100
- Issue:
- 1
- Pages:
- 138-150
- Publication date:
- 2016-12-23
- Acceptance date:
- 2016-11-22
- DOI:
- EISSN:
-
1537-6605
- ISSN:
-
0002-9297
- Source identifiers:
-
667525
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:667525
- UUID:
-
uuid:a5449b31-a8e2-4b06-9883-9956033df8b0
- Local pid:
- pubs:667525
- Deposit date:
- 2017-03-13
Terms of use
- Copyright holder:
- © 2016 American Society of Human Genetics
- Copyright date:
- 2016
- Notes:
- © 2016 American Society of Human Genetics. Published by Elsevier
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