Journal article
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
- Abstract:
-
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. Through an exome sequencing approach (as part of the Deciphering Developmental Disorders [DDD] study) we have identified five unrelated individuals with previously unreported, de novo ZBTB20 pathogenic missense variants. All five missense variants targeted the C2H2 zinc finger domains. This genotype-up approach has allowed further refinement of the Primrose syndrome phenotype. Majo...
Expand abstract
- Publication status:
- Published
- Peer review status:
- Peer reviewed
Actions
Access Document
- Files:
-
-
(Accepted manuscript, pdf, 1.2MB)
-
- Publisher copy:
- 10.1002/ajmg.a.61024
Why is the content I wish to access not available via ORA?
Bibliographic data (the information relating to research outputs) and full-text items (e.g. articles, theses, reports, etc.) arrive in ORA from several different sources. Unfortunately we are not able to make available the full-text for every research output.
Please contact the ORA team (
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
Content may be unavailable for the following four reasons
-
Version unsuitable
-
We have not obtained a suitable full-text for a given research output. See this page for more information.
-
Recently completed
-
Sometimes content is held in ORA but is unavailable for a fixed period of time to comply with the policies and wishes of rights holders.
-
Permissions
-
All content made available in ORA should comply with relevant rights, such as copyright. See this page for more information.
-
Clearance
-
Some thesis volumes scanned as part of the digitisation scheme funded by Dr Leonard Polonsky are currently unavailable due to sensitive material or uncleared third-party copyright content. We are attempting to contact authors whose theses are affected.
Alternative access to the full-text
You may be able to access the full-text directly from the publisher's website using the 'Publisher Copy' link in the 'Links & Downloads' box from a research output's ORA record page. This method may require an institutional or individual subscription to the journal/resource.
Authors
Funding
Wellcome Trust
More from this funder
National Institute for Health Research
More from this funder
Bibliographic Details
- Publisher:
- Wiley Publisher's website
- Journal:
- American Journal of Medical Genetics Journal website
- Volume:
- 179
- Issue:
- 3
- Pages:
- 344-349
- Publication date:
- 2019-01-13
- Acceptance date:
- 2018-11-29
- DOI:
- EISSN:
-
1552-4833
- ISSN:
-
1552-4825
- Pmid:
-
30637921
- Source identifiers:
-
966311
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:966311
- UUID:
-
uuid:448347c3-5f6a-416b-b5e3-fed3f188d2e2
- Local pid:
- pubs:966311
- Deposit date:
- 2019-03-06
Terms of use
- Copyright date:
- 2019
- Notes:
- This is the accepted manuscript version of the article. The final version is available online from Wiley at: 10.1002/ajmg.a.61024
If you are the owner of this record, you can report an update to it here: Report update to this record