Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status

por Klausegger, Alfred, Jeschko, Niklas, Grammer, Markus, Cemper-Kiesslich, Jan, Neuhuber, Franz, Diem, Anja, Breitenbach-Koller, Hannelore, Sander, Gabriele, Kotzot, Dieter, Bauer, Johann Wolfgang, Laimer, Martin
Publicado 2022