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ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

Abstract:

Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari‐1 malformation, speech and language delay, and learning difficulties and/or behavioral problems. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis. Here, we present findings from 16...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1002/ajmg.a.61073

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Institution:
University of Oxford
Division:
Medical Sciences Division
Role:
Author
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Publisher:
John Wiley and Sons, Ltd. Publisher's website
Journal:
American Journal of Medical Genetics Part A Journal website
Volume:
179
Issue:
4
Pages:
615-627
Publication date:
2019-02-13
Acceptance date:
2018-12-24
DOI:
EISSN:
1552-4833
ISSN:
1096-8628
Keywords:
Pubs id:
pubs:954817
UUID:
uuid:4b443516-0fa5-4c2c-a701-71a7acd0bfd5
Local pid:
pubs:954817
Deposit date:
2018-12-27

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