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Journal article

De novo SOX6 variants cause a neurodevelopmental syndrome associated with attention deficit/hyperactivity disorder, craniosynostosis and osteochondroma

Abstract:

SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes have been shown to cause severe developmental and adult syndromes, referred to as SOXopathies. We here provide evidence that 

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.ajhg.2020.04.015

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Strategic
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
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Publisher:
Elsevier Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
106
Issue:
6
Pages:
830-845
Publication date:
2020-05-21
Acceptance date:
2020-04-24
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Language:
English
Keywords:
Pubs id:
1101539
Local pid:
pubs:1101539
Deposit date:
2020-11-23

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