Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism
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- 作者：Anna Mensa-Vilaro ; Weng Tarng Cham ; Swee Ping Tang ; Sern Chin Lim ; Eva Gonzá ; lez-Roca ; Estibaliz Ruiz-Ortiz ; Roziana Ariffin ; Jordi Yagü ; e and Juan I. Aró ; stegui
- 刊名：Arthritis & Rheumatism
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：68
- 期：4
- 页码：1039-1044
- 全文大小：283K
- ISSN：1529-0131
文摘
Blau syndrome is characterized by noncaseating granulomatous arthritis, dermatitis, and uveitis, and results from gain-of-function NOD2 mutations. This study was undertaken to identify the genetic cause of the disease in a family with 3 members with Blau syndrome.