Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

BACKGROUND: Despite recent advances in the diagnosis and understanding of many autoinflammatory diseases, there are still a great number of patients with phenotypes that do not fit any clinically- and/or genetically-defined disorders. CASE PRESENTATION: We describe a fourteen-year-old boy who presen...

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Bibliografiset tiedot
Julkaisussa:Pediatr Rheumatol Online J
Päätekijät: Tucker, Lori B., Lamot, Lovro, Niemietz, Iwona, Chung, Brian K., Cabral, David A., Houghton, Kristin, Petty, Ross E., Morishita, Kimberly A., Rice, Gillian I., Turvey, Stuart E., Gibson, William T., Brown, Kelly L.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2019
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6819641/
https://ncbi.nlm.nih.gov/pubmed/31660995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12969-019-0374-x
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