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Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling.
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.
Afiliação
  • Deigendesch N; Institute of Pathology and Medical Genetics, University Hospital Basel, Basel.
  • Hirsiger JR; Translational Immunology, Department of Biomedicine, University of Basel, Basel.
  • Bigler MB; Translational Immunology, Department of Biomedicine, University of Basel, Basel.
  • Ghosh A; Department of Dermatology, University Hospital Zurich, Zurich.
  • Harder D; Clinic of Radiology and Nuclear Medicine, University Hospital Basel, University of Basel, Basel.
  • Jauch A; Immunodeficiency Laboratory, Department of Biomedicine, University of Basel, Basel, Switzerland.
  • Espinosa JM; Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Aurora, CO, USA.
  • Recher M; Immunodeficiency Laboratory, Department of Biomedicine, University of Basel, Basel, Switzerland.
  • Navarini A; Department of Dermatology, University Hospital Basel, Basel.
  • Daikeler T; Department of Rheumatology, University Hospital Basel, Basel.
  • Berger CT; Translational Immunology, Department of Biomedicine, University of Basel, Basel.
Rheumatology (Oxford) ; 59(11): e102-e104, 2020 11 01.
Article em En | MEDLINE | ID: mdl-32594144
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Calcinose / Síndrome de Down / Doenças do Tecido Conjuntivo Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Calcinose / Síndrome de Down / Doenças do Tecido Conjuntivo Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article