A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome-Reference-Cited by-同舟云学术

A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome

Published:2021-07-12 Issue:6 Volume:42 Page:753-764
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Rodrigues Filipa G¹²³^ORCID,Petrushkin Harry¹⁴^ORCID,Webster Andrew R²³⁵,Bickerstaff Maria⁶,Moraitis Elena⁴,Rowczenio Dorota⁷,Aróstegui Juan I.⁸⁹¹⁰^ORCID,Westcott Mark¹³

Affiliation:

1. Uveitis and Scleritis Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK

2. National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK

3. UCL Institute of Ophthalmology, London, UK

4. Rheumatology Department, Great Ormond Street Hospital for Children, London, UK

5. Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK

6. Department of Rheumatology, Barts Health NHS Trust, London, UK

7. National Amyloidosis Centre, University College London, London, UK

8. Department of Immunology, Hospital Clínic, Barcelona, Spain

9. Institut d’Investigacions Biomèdiques August Pi I Sunyer, Barcelona, Spain

10. School of Medicine, Universitat De Barcelona, Barcelona, Spain

Funder

Ministry of Science, Innovation and Universities co-financed by the European Regional Development Fund (JIA).

Spanish Ministry of Science, Innovation and Universities co-financed by the European Regional Development Fund

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1946701

Reference68 articles.

1. Familial Granulomatous Arteritis with Polyarthritis of Juvenile Onset

2. Familial granulomatous arthritis, iritis, and rash

3. Familial granulomatous synovitis, uveitis, and cranial neuropathies

4. CARD15 mutations in Blau syndrome

5. Presence of a Sporadic Case of Systemic Granulomatosis Syndrome with a CARD15 Mutation

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