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

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Bibliographic Details
Published in:Acta dermato-venereologica 2020-01, Vol.100 (1), p.adv00041
Main Authors: 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
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Language:English
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Summary:Abstract is missing (Short communication)
ISSN:0001-5555
1651-2057
DOI:10.2340/00015555-3313