Blau syndrome with a rare mutation in exon 9 of NOD2 gene

• Main Authors: Jelena Velickovic (Author), Fatma Silan (Author), Firdevs Dincsoy Bir (Author), Coskun Silan (Author), Burcu Albuz (Author), Ozturk Ozdemir (Author)
• Format: Bog
• Udgivet: Taylor & Francis Group, 2019-11-01T00:00:00Z.
• Fag: article
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Blau syndrome is an autosomal dominant rare disease caused by mutations in NOD2 gene. Less than 200 patients published with Blau Syndrome Worldwide. We reported a 41-year old female Turkish patient diagnosed as Blau syndrome. Granulomatous dermatitis and severe headache, as well as recurrent chest a...