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- Title
A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation.
- Authors
Gunduz, Zubeyde; Dursun, Ismail; Aróstegui, Juan I.; Yagüe, Jordi; Dusunsel, Ruhan; Poyrazoglu, Hakan M.; Kaya Gurgoze, Metin; Yıkılmaz, Ali
- Abstract
The article describes a Turkish patient suffering from chronic infantile neurological, cutaneous and atricular neonatal-onset multisystem inflammatory disease. The authors report that CIAS1 genetic analyses revealed the presence of the novel and de novo missense Val-351-Leu in exon 3 to be responsible for the disease.
- Subjects
NEUROLOGICAL disorders; PEDIATRIC neurology; INFLAMMATION; GENETIC disorders in children; NEUROLOGY
- Publication
Rheumatology International, 2008, Vol 28, Issue 4, p379
- ISSN
0172-8172
- Publication type
Article
- DOI
10.1007/s00296-007-0432-4