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Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.
Skowronek, Dariush; Hebebrand, Moritz; Erber, Ramona; Agaimy, Abbas; Zweier, Christiane; Felbor, Ute; Rath, Matthias.
Affiliation
  • Skowronek D; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Fleischmannstraße 43, 17475 Greifswald, Germany.
  • Hebebrand M; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054 Erlangen, Germany.
  • Erber R; Institute of Pathology, University Hospital Erlangen, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Krankenhausstraße 8-10, 91054 Erlangen, Germany.
  • Agaimy A; Institute of Pathology, University Hospital Erlangen, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Krankenhausstraße 8-10, 91054 Erlangen, Germany.
  • Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054 Erlangen, Germany.
  • Felbor U; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Fleischmannstraße 43, 17475 Greifswald, Germany.
  • Rath M; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Fleischmannstraße 43, 17475 Greifswald, Germany.
Eur J Dermatol ; 30(2): 179-181, 2020 Apr 01.
Article in En | MEDLINE | ID: mdl-32538359
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Neoplasms / Frameshift Mutation / Glomus Tumor / Paraganglioma, Extra-Adrenal / Genetic Heterogeneity / Adaptor Proteins, Signal Transducing Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Eur J Dermatol Journal subject: DERMATOLOGIA Year: 2020 Document type: Article Affiliation country: Alemania
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Neoplasms / Frameshift Mutation / Glomus Tumor / Paraganglioma, Extra-Adrenal / Genetic Heterogeneity / Adaptor Proteins, Signal Transducing Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Eur J Dermatol Journal subject: DERMATOLOGIA Year: 2020 Document type: Article Affiliation country: Alemania