Publication

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

Journal Paper/Review - Jan 30, 2020

Higgins Rebecca, Fischer Tina, Schwieger-Briel Agnes E, French Lars E, Hoetzenecker Wolfram, Hornung René, Malzacher Andreas, Cozzio Antonio, Navarini Alexander, Has Cristina, Chang Yun-Tsan, Desislava Ignatova, Jensen Annika N, Wachstein Julian, Bruckner-Tuderman Leena, Spiegel Roland, Traber Hubert, Achermann Josef, Schaller Martin, Fehrenbacher Birgit, Röcken Martin, Guenova Emmanuella