A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases

✍ Scribed by Juan I. Aróstegui; Ma Dolores Lopez Saldaña; Mariona Pascal; Daniel Clemente; Marta Aymerich; Francesc Balaguer; Ajay Goel; Concepción Fournier del Castillo; Josefa Rius; Susana Plaza; Juan Carlos López Robledillo; Manel Juan; Mercedes Ibañez; Jordi Yagüe

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 753 KB
• Volume: 62
• Category: Article
• ISSN: 0004-3591
• DOI: 10.1002/art.27342