A New Mutation in Blau Syndrome
Joint Authors
Zeybek, Cengiz
Basbozkurt, Gokalp
Gul, Davut
Demirkaya, Erkan
Gok, Faysal
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-01-27
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease.
The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis.
Blau syndrome is related to mutations located at the 16q12.2–13 gene locus.
To date, 11 NOD2 gene mutations causing Blau syndrome have been described.
Here, we describe a 5-year-old male patient who presented with Blau syndrome associated with a novel sporadic gene mutation that has not been reported previously.
American Psychological Association (APA)
Zeybek, Cengiz& Basbozkurt, Gokalp& Gul, Davut& Demirkaya, Erkan& Gok, Faysal. 2015. A New Mutation in Blau Syndrome. Case Reports in Rheumatology،Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059971
Modern Language Association (MLA)
Zeybek, Cengiz…[et al.]. A New Mutation in Blau Syndrome. Case Reports in Rheumatology No. 2015 (2015), pp.1-3.
https://search.emarefa.net/detail/BIM-1059971
American Medical Association (AMA)
Zeybek, Cengiz& Basbozkurt, Gokalp& Gul, Davut& Demirkaya, Erkan& Gok, Faysal. A New Mutation in Blau Syndrome. Case Reports in Rheumatology. 2015. Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059971
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059971