Journal article
Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities
- Abstract:
- This report constitutes the first report of a cryptic exonic splice-donor site in CDK5RAP2, highlights the importance of evaluating novel splice mutations, and suggests that the phenotypic range associated with CDK5RAP2 mutations may include skin pigmentary abnormalities.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 2.0MB, Terms of use)
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- Publisher copy:
- 10.1002/ccr3.663
Authors
- Publisher:
- Wiley
- Journal:
- Clinical Case Reports More from this journal
- Volume:
- 4
- Issue:
- 10
- Pages:
- 952-956
- Publication date:
- 2016-10-01
- Acceptance date:
- 2016-07-24
- DOI:
- ISSN:
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2050-090
- Language:
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English
- Keywords:
- Pubs id:
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pubs:654999
- UUID:
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uuid:da7bd0d0-6685-40ed-9caa-77d9803998f6
- Local pid:
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pubs:654999
- Source identifiers:
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654999
- Deposit date:
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2016-11-02
- ARK identifier:
Terms of use
- Copyright holder:
- Pagnamenta et al
- Copyright date:
- 2016
- Notes:
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Copyright © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
- Licence:
- CC Attribution (CC BY)
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