Unraveling a case of junctional epidermolysis bullosa in a newborn: tragic coincidence of a novel mutation of the itga6 gene and trisomic rescue

Jensen A, Cozzio A, Malzacher A, Hornung R, Hoetzenecker W, French L, Fischer T, Chang Y, Ignatova D, Rocken M, Fehrenbacher B, Schaller M, Achermann J, Traber H, Spiegel R, Bruckner-Tuderman L, Has C, Wachstein J, Guenova E (2017). Unraveling a case of junctional epidermolysis bullosa in a newborn: tragic coincidence of a novel mutation of the itga6 gene and trisomic rescue.