Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling
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| Veröffentlicht in: | Rheumatology (Oxford, England) England), 2020-11, Vol.59 (11), p.e102-e104 |
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| container_end_page | e104 |
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| container_issue | 11 |
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| container_title | Rheumatology (Oxford, England) |
| container_volume | 59 |
| creator | Deigendesch, Nikolaus Hirsiger, Julia R Bigler, Marc B Ghosh, Adhideb Harder, Dorothee Jauch, Annaïse Espinosa, Joaquin M Recher, Mike Navarini, Alexander Daikeler, Thomas Berger, Christoph T |
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| doi_str_mv | 10.1093/rheumatology/keaa301 |
| format | Article |
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Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. 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| fulltext | fulltext |
| identifier | ISSN: 1462-0324 |
| ispartof | Rheumatology (Oxford, England), 2020-11, Vol.59 (11), p.e102-e104 |
| issn | 1462-0324 1462-0332 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7820359 |
| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Alma/SFX Local Collection |
| subjects | Calcinosis - etiology Connective Tissue Diseases - etiology Down Syndrome - complications Down Syndrome - genetics Female Germ-Line Mutation Heterozygote Humans Interferon Type I - physiology Intracellular Signaling Peptides and Proteins - genetics Middle Aged Published Online Only Signal Transduction |
| title | Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling |
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