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Annals of the rheumatic diseases, ISSN 0003-4967, 11/2015, Volume 74, Issue 11, pp. 2043 - 2049
ObjectiveTo evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry,... 
ARTICULAR SYNDROME | NLRP3 MUTATION | Research Support, Non-U.S. Gov't | LOW-LEVEL MOSAICISM | SYNDROMES CAPS | GENETIC-HETEROGENEITY | MUCKLE-WELLS-SYNDROME | COLD AUTOINFLAMMATORY SYNDROME | CIAS1 MUTATIONS | AA AMYLOIDOSIS | Journal Article | MULTISYSTEM INFLAMMATORY DISEASE | Life Sciences & Biomedicine | Rheumatology | Science & Technology | Arthralgia - etiology | Uveitis - etiology | Conjunctivitis - genetics | Headache - etiology | Exanthema - genetics | Myalgia - genetics | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Child, Preschool | Infant | Male | Papilledema - genetics | Arthritis - genetics | Meningitis - etiology | Exanthema - etiology | Young Adult | Arthritis - etiology | Germ-Line Mutation | Adult | Female | Registries | Retrospective Studies | Arthralgia - genetics | Child | Cryopyrin-Associated Periodic Syndromes - complications | Meningitis - genetics | Severity of Illness Index | Cryopyrin-Associated Periodic Syndromes - genetics | Europe | Genotype | Myalgia - etiology | Hearing Loss, Sensorineural - genetics | Headache - genetics | Cryopyrin-Associated Periodic Syndromes - physiopathology | Carrier Proteins - genetics | Phenotype | Hearing Loss, Sensorineural - etiology | Adolescent | Alleles | Heterozygote | Mutation | Uveitis - genetics | Conjunctivitis - etiology | Cohort Studies | Papilledema - etiology | Complications and side effects | Nervous system diseases | Care and treatment | Research | Cryopyrin-associated periodic syndromes | Studies | Genotype & phenotype | Statistical analysis | Disease | Cold | Meningitis | Family medical history | Hearing impairment | Fever | Chronic illnesses | Index Medicus
Journal Article
Journal Article
Archivos de la Sociedad Española de Oftalmología, ISSN 0365-6691, 2019, Volume 94, Issue 7, p. 359
Journal Article
Journal Article
Bone (New York, N.Y.), 09/2020, pp. 115661 - 115661
BACKGROUNDFibrous dysplasia (FD) is a rare disorder of expansile fibro-osseous lesions that may be associated with extraskeletal features as part of... 
Index Medicus
Journal Article
Journal Article