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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OAIster

Journal :

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 (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):adv00041.

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application/pdf, info:doi/10.5167/uzh-183417, English, English

Publication Type :

Electronic Resource

Accession number :

edsoai.on1416178643

Document Type :

Electronic Resource