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 |
|---|---|
| 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: | 10 Dec 2020 15:55 |
| Publisher: | Society for the Publication of Acta Dermato-Venereologica |
| ISSN: | 0001-5555 |
| OA Status: | Gold |
| Free access at: | Publisher DOI. An embargo period may apply. |
| Publisher DOI: | https://doi.org/10.2340/00015555-3313 |
| PubMed ID: | 31502654 |
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Higgins, Rebecca