title: Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.
authors.forename: Joost
authors.initials: J
authors.lastname: Frenkel
authors.forename: Marjan J A
authors.initials: MJ
authors.lastname: van Kempen
authors.forename: Wietse
authors.initials: W
authors.lastname: Kuis
authors.forename: Hans Kristian Ploos
authors.initials: HK
authors.lastname: van Amstel
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D009422:Nervous System Diseases / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome; D014652:Vascular Diseases / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human