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Article

Challenges in diagnosing Muckle-Wells syndrome: identifying two distinct phenotypes.

Arthritis care & research - 1 May 2014

Kuemmerle-Deschner Jasmin B, Dembi Samba Samuel, Tyrrell Pascal N, Koné-Paut Isabelle, Marie Isabelle, Deschner Norbert, Benseler Susanne M

Abstract excerpt

OBJECTIVE: The diagnosis of Muckle-Wells syndrome (MWS) remains challenging due to the clinical heterogeneity and lack of diagnostic criteria. The aims of this study were to describe key elements of the diagnostic evaluation process in MWS and compare identified variables between patients diagnosed in childhood and adulthood. METHODS: A cohort study of consecutive patients with a clinical and genetic diagnosis of...

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PMID: 24127202
DOI: 10.1002/acr.22206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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