Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling

Research Database / FORSCHUNGSDATENBANK

Publication 4601868 | Verified

Data Entry: Please note that the research database will be replaced by UNIverse by the end of October 2023. Please enter your data into the system https://universe-intern.unibas.ch. Thanks

Login for users with Unibas email account...

Login for registered users without Unibas email account...

Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling

JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)

ID	4601868
Author(s)	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.
Author(s) at UniBasel	Navarini, Alexander
Year	2020
Title	Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling
Journal	Rheumatology
Volume	59
Number	11
Pages / Article-Number	e102-e104
Mesh terms	Calcinosis, etiology; Connective Tissue Diseases, etiology; Down Syndrome, genetics; Female; Germ-Line Mutation; Heterozygote; Humans; Interferon Type I, physiology; Intracellular Signaling Peptides and Proteins, genetics; Middle Aged; Signal Transduction
Publisher	Oxford University Press
ISSN/ISBN	1462-0324 ; 1462-0332
edoc-URL	https://edoc.unibas.ch/80438/
Full Text on edoc	No
Digital Object Identifier DOI	10.1093/rheumatology/keaa301
PubMed ID	http://www.ncbi.nlm.nih.gov/pubmed/32594144
Document type (ISI)	Letter

24/04/2024

Research Database / FORSCHUNGSDATENBANK