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Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1.
Alter, Svenja; Zimmer, Andreas David; Park, Misun; Gong, Jianli; Caliebe, Almuth; Fölster-Holst, Regina; Torrelo, Antonio; Colmenero, Isabel; Steinberg, Susan F; Fischer, Judith.
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  • Alter S; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Zimmer AD; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Park M; Department of Pharmacology, Columbia University, New York, New York, USA.
  • Gong J; Department of Pharmacology, Columbia University, New York, New York, USA.
  • Caliebe A; Institute of Human Genetics, Christian-Albrechts University Kiel & University Hospital Schleswig-Holstein, Kiel, Germany.
  • Fölster-Holst R; Department of Dermatology, Christian-Albrechts University Kiel & University Hospital Schleswig-Holstein, Kiel, Germany.
  • Torrelo A; Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • Colmenero I; Department of Pathology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • Steinberg SF; Department of Pharmacology, Columbia University, New York, New York, USA judith.fischer@uniklinik-freiburg.de sfs1@cumc.columbia.edu.
  • Fischer J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany judith.fischer@uniklinik-freiburg.de sfs1@cumc.columbia.edu.
J Med Genet ; 58(6): 415-421, 2021 06.
Article en En | MEDLINE | ID: mdl-32817298
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Telangiectasia / Proteína Quinasa C / Displasia Ectodérmica / Braquidactilia / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Telangiectasia / Proteína Quinasa C / Displasia Ectodérmica / Braquidactilia / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2021 Tipo del documento: Article País de afiliación: Alemania