Journal article
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis
- Abstract:
-
Craniosynostosis, the premature ossification of cranial sutures, is a developmental disorder of the skull vault, occurring in approximately 1 in 2250 births. The causes are heterogeneous, with a monogenic basis identified in ~25% of patients. Using whole-genome sequencing, we identified a novel, de novo variant in BCL11B, c.7C>A, encoding an R3S substitution (p.R3S), in a male patient with coronal suture synostosis. BCL11B is a transcription factor that interacts directly with the nucleoso...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Bibliographic Details
- Publisher:
- Oxford University Press Publisher's website
- Journal:
- Human Molecular Genetics Journal website
- Volume:
- 28
- Issue:
- 15
- Pages:
- 2501–2513
- Publication date:
- 2019-04-03
- Acceptance date:
- 2019-03-29
- DOI:
- EISSN:
-
1460-2083
- ISSN:
-
0964-6906
Item Description
- Subjects:
- Pubs id:
-
pubs:987379
- UUID:
-
uuid:b16d872e-45a3-4e15-beca-f3d9cd3f7023
- Local pid:
- pubs:987379
- Deposit date:
- 2019-04-02
Terms of use
- Copyright holder:
- Goos, JAC et al
- Copyright date:
- 2019
- Notes:
- © The Author(s) 2019. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
- Licence:
- CC Attribution (CC BY)
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