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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...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1002/ajmg.a.61024

Authors


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Role:
Author
ORCID:
0000-0002-5987-3813
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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Strategic
Oxford college:
Green Templeton College
Role:
Author
ORCID:
0000-0002-7680-9311
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Wellcome Trust More from this funder
National Institute for Health Research More from this funder
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
Language:
English
Keywords:
Pubs id:
pubs:966311
UUID:
uuid:448347c3-5f6a-416b-b5e3-fed3f188d2e2
Local pid:
pubs:966311
Deposit date:
2019-03-06

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