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

by 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
Published 2020-01-01