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

    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
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