Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

Authors

  • 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

DOI:

https://doi.org/10.2340/00015555-3313

Abstract

Abstract is missing (Short communication)

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Published

2020-01-30

How to Cite

Higgins, R., Jensen, A. N., Wachstein, J., Bruckner-Tuderman, L., Spiegel, R., Traber, H., Achermann, J., Schaller, M., Fehrenbacher, B., Röcken, M., Ignatova, D., Chang, Y.-T., Fischer, T., E. Schwieger-Briel, A., French, L. E., Hoetzenecker, W., Hornung, R., Malzacher, A., Cozzio, A., Navarini, A., Has, C., & Guenova, E. (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), 1–3. https://doi.org/10.2340/00015555-3313

Issue

Vol. 100 No. 1 (2020): January

Section

Short Communication

License

Copyright (c) 2020 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

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