Acta Dermato-Venereologica (Jan 2020)
Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
- Rebecca Higgins,
- Annika N. Jensen,
- Julian Wachstein,
- Leena Bruckner-Tuderman,
- Roland Spiegel,
- Hubert Traber,
- Josef Achermann,
- Martin Schaller,
- Birgit Fehrenbacher,
- Martin Röcken,
- Desislava Ignatova,
- Yun-Tsan Chang,
- Tina Fischer,
- Agnes E. Schwieger-Briel,
- Lars E. French,
- Wolfram Hoetzenecker,
- René Hornung,
- Andreas Malzacher,
- Antonio Cozzio,
- Alexander Navarini,
- Cristina Has,
- Emmanuella Guenova
Affiliations
- Rebecca Higgins
- Department of Dermatology, University Hospital Zurich, 8050 Zurich, Switzerland.
- Annika N. Jensen
- Julian Wachstein
- Leena Bruckner-Tuderman
- Roland Spiegel
- Hubert Traber
- Josef Achermann
- Martin Schaller
- Birgit Fehrenbacher
- Martin Röcken
- Desislava Ignatova
- Yun-Tsan Chang
- Tina Fischer
- Agnes E. Schwieger-Briel
- Lars E. French
- Wolfram Hoetzenecker
- René Hornung
- Andreas Malzacher
- Antonio Cozzio
- Alexander Navarini
- Cristina Has
- Emmanuella Guenova
- DOI
- https://doi.org/10.2340/00015555-3313
- Journal volume & issue
-
Vol. 100,
no. 1
p. adv00041
Abstract
Abstract is missing (Short communication)
