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

Source: Acta Dermato-Venereologica, Vol 100, Iss 1, p adv00041 (2020)

Subject Terms: Dermatology, RL1-803

File Description: electronic resource

Relation: https://www.medicaljournals.se/jadv/content/html/10.2340/00015555-3313; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

Access URL: https://doaj.org/article/f8616c3fa96d47a2b8962e6e4d6e4fed