Journal article icon

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...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Publisher copy:
10.1016/j.ajhg.2016.11.020

Authors


More by this author
Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
More by this author
Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
Expand authors...
More from this funder
Funding agency for:
Sleven, H
More from this funder
Funding agency for:
Yu, J
Expand funders...
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
Pubs id:
pubs:667525
URN:
uri:a5449b31-a8e2-4b06-9883-9956033df8b0
UUID:
uuid:a5449b31-a8e2-4b06-9883-9956033df8b0
Local pid:
pubs:667525
Language:
English
Keywords:

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP