Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness.
Singh-Grewal
Davinder
D
Chaitow
Jeffrey
J
Aksentijevich
Ivona
I
Christodoulou
John
J
D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D000071198:Pyrin
D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D000071198:Pyrin