Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature-Reference-Cited by-同舟云学术

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

Published:2019-01-13 Issue:3 Volume:179 Page:344-349
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cleaver Ruth¹²^ORCID,Berg Jonathan³,Craft Emily⁴,Foster Alison⁵,Gibbons Richard J.⁶,Hobson Emma⁷,Lachlan Katherine⁸⁹,Naik Swati⁵,Sampson Julian R.¹⁰,Sharif Saba⁵,Smithson Sarah¹¹,Parker Michael J.¹²,Tatton‐Brown Katrina¹¹³,

Affiliation:

1. South West Thames Regional Genetics ServiceSt. George's University Hospitals NHS Foundation Trust London United Kingdom

2. Peninsula Clinical Genetics ServiceRoyal Devon and Exeter NHS Foundation Trust Exeter United Kingdom

3. East of Scotland Regional Genetics Service Dundee United Kingdom

4. Department of Clinical GeneticsUniversity Hospitals of Leicester NHS Trust Leicester United Kingdom

5. West Midlands Regional Genetics Service Birmingham United Kingdom

6. Oxford Centre for Genomic Medicine Oxford United Kingdom

7. Yorkshire Regional Genetics ServiceChapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust Leeds United Kingdom

8. Wessex Clinical Genetics Service Southampton United Kingdom

9. Department of Human Genetics and Genomic MedicineSouthampton University Southampton United Kingdom

10. Institute of Medical Genetics, Division of Cancer and GeneticsCardiff University Cardiff United Kingdom

11. Clinical Genetics ServiceUniversity Hospitals Bristol Bristol United Kingdom

12. Sheffield Children's NHS Foundation TrustSheffield Clinical Genetics Service Sheffield South Yorkshire United Kingdom

13. St. George's University of London London United Kingdom

Funder

National Institute for Health Research

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61024

Reference22 articles.

1. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

2. The Primrose syndrome with progressive neurological involvement and cerebral calcification

3. Additional features of unique Primrose syndrome phenotype

4. Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome

5. THE SYNDROME OF MENTAL HANDICAP, CATARACTS, MUSCLE WASTING AND SKELETAL ABNORMALITIES: REPORT OF A SECOND CASE

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