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A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Karvonen, V; Harjama, L; Heliö, K; Kettunen, K; Elomaa, O; Koskenvuo, J W; Kere, J; Weckström, S; Holmström, M; Saarela, J; Ranki, A; Heliö, T; Hannula-Jouppi, K.
Afiliação
  • Karvonen V; Department of Dermatology and Allergology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Harjama L; Department of Dermatology and Allergology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Heliö K; Department of Cardiology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Kettunen K; HUS Diagnostic Center, Division of Genetics and Clinical Pharmacology, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Elomaa O; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
  • Koskenvuo JW; Folkhälsan Research Center, Helsinki, Finland and Research Programs Unit, Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland.
  • Kere J; Blueprint Genetics, Espoo, Finland.
  • Weckström S; Folkhälsan Research Center, Helsinki, Finland and Research Programs Unit, Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland.
  • Holmström M; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
  • Saarela J; Department of Cardiology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Ranki A; Radiology, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Heliö T; HUS Diagnostic Center, Division of Genetics and Clinical Pharmacology, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Hannula-Jouppi K; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
J Eur Acad Dermatol Venereol ; 36(8): 1349-1358, 2022 Aug.
Article em En | MEDLINE | ID: mdl-35445468
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article