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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819641/
https://www.ncbi.nlm.nih.gov/pubmed/31660995
http://dx.doi.org/10.1186/s12969-019-0374-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819641/
https://www.ncbi.nlm.nih.gov/pubmed/31660995
http://dx.doi.org/10.1186/s12969-019-0374-x

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