Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.
Frenkel
Joost
J
van Kempen
Marjan J A
MJ
Kuis
Wietse
W
van Amstel
Hans Kristian Ploos
HK
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*
D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human