Higgins, Rebecca; Jensen, Annika N; Wachstein, Julian; Bruckner-Tuderman, Leena; Spiegel, Roland; Traber, Hubert; Achermann, Josef; Schaller, Martin; Fehrenbacher, Birgit; Röcken, Martin; Ignatova, Desislava; Chang, Yun-Tsan; Fischer, Tina; Schwieger-Briel, Agnes E; French, Lars E; Hoetzenecker, Wolfram; Hornung, René; Malzacher, Andreas; Cozzio, Antonio; Navarini, Alexander; Has, Cristina; Guenova, Emmanuella (2020). Uniparental disomy of Chromosome 2 unmasks new ITGA6 recessive mutation and results in a lethal junctional epidermolysis bullosa in a newborn. Acta Dermato-Venereologica, 100(1):adv00041.
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Item Type: | Journal Article, refereed, original work |
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Communities & Collections: | 04 Faculty of Medicine > University Children's Hospital Zurich > Clinic for Surgery |
Dewey Decimal Classification: | 610 Medicine & health |
Scopus Subject Areas: | Health Sciences > Dermatology |
Language: | English |
Date: | 30 January 2020 |
Deposited On: | 20 Feb 2020 16:38 |
Last Modified: | 23 Sep 2023 01:43 |
Publisher: | Society for the Publication of Acta Dermato-Venereologica |
ISSN: | 0001-5555 |
OA Status: | Gold |
Free access at: | PubMed ID. An embargo period may apply. |
Publisher DOI: | https://doi.org/10.2340/00015555-3313 |
PubMed ID: | 31502654 |
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Permanent URL: https://doi.org/10.5167/uzh-183417
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Authors, Affiliations, Collaborations
University Hospital Zurich, Dermatologische Klinik, Zurich, Switzerland
Kantonsspital St Gallen, St Gallen, Switzerland
Allergy Diagnosis and Study Center, Vienna, Austria
Allergy Diagnosis and Study Center, Vienna, Austria
Kantonsspital St Gallen, St Gallen, Switzerland
Universitäts Klinikum Freiburg und Medizinische Fakultät, Freiburg im Breisgau, Germany
Human Genetics Laboratory, Zurich, Switzerland
Human Genetics Laboratory, Zurich, Switzerland
Human Genetics Laboratory, Zurich, Switzerland
Universität Tübingen, Tubingen, Germany
Universität Tübingen, Tubingen, Germany
Universität Tübingen, Tubingen, Germany
UniversitatsSpital Zurich, Zurich, Switzerland
University of Zurich, Zurich, Switzerland
University of Zurich, Zurich, Switzerland
UniversitatsSpital Zurich, Zurich, Switzerland
University of Zurich, Zurich, Switzerland
University of Zurich, Zurich, Switzerland
Kantonsspital St Gallen, St Gallen, Switzerland
Kinderspital Zürich, Zurich, Switzerland
UniversitatsSpital Zurich, Zurich, Switzerland
Klinikum der Universität München, Munich, Germany
Klinikum der Universität München, Munich, Germany
Kantonsspital St Gallen, St Gallen, Switzerland
Allergy Diagnosis and Study Center, Vienna, Austria
Allergy Diagnosis and Study Center, Vienna, Austria
Kantonsspital St Gallen, St Gallen, Switzerland
UniversitatsSpital Zurich, Zurich, Switzerland
University of Zurich, Zurich, Switzerland
University of Zurich, Zurich, Switzerland
Universitäts Klinikum Freiburg und Medizinische Fakultät, Freiburg im Breisgau, Germany


UniversitatsSpital Zurich, Zurich, Switzerland
University of Zurich, Zurich, Switzerland
Kantonsspital St Gallen, St Gallen, Switzerland
Université de Lausanne (UNIL), Lausanne, Switzerland
University of Zurich, Zurich, Switzerland
Kantonsspital St Gallen, St Gallen, Switzerland
Université de Lausanne (UNIL), Lausanne, Switzerland
Source of ORCID ID: Import from PubMed