Associated Papers
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.
David C et al.
Annals of the Rheumatic Diseases, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant.
Zheng Y et al.
Molecular Genetics & Genomic Medicine, 2024
COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide.
Simchoni N et al.
Rheumatic Diseases Clinics of North America, 2023
A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review.
Zeng J et al.
Frontiers in Pediatrics, 2021
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